Genes and Mapped Loci Causing Retinal Diseases
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Total entries = 349. If you know the symbol but not the chromosome, please use the Symbols list to find a gene.
(Last updated April 16, 2024)
Chromosome 1 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
SAMD11; 616765 |
1p36.33 | recessive retinitis pigmentosa; protein: sterile alpha motif domain containing 11 protein [Gene] | homozygosity mapping, whole-exome sequencing; a single homozygous SAMD11 p.Arg630* nonsense mutation found in five affected members of two unrelated consanguineous Spanish families with recessive RP; the SAMD11 transcript and protein are abundant in retina; the transcript is present in the early mouse embryo and widely expressed with 45 alternate splice variants; only ocular symptoms were documented in affected individuals; the SAMD11 protein is involved in signal transduction and regulation of transcription and interacts with CRX | Corton 16 |
|
NPHP4, SLSN4; 606966, 606996, 607215 |
1p36.31 | recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; protein: nephronophthisis 4 protein [Gene] | linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; NPHP4 protein interacts with NPHP1 protein | Mollet 02; Otto 02; Schuermann 02 |
|
ESPN, DFNB36; 606351, 609006 |
1p36.31 | recessive Usher syndrome; protein: espin protein [Gene] | homozygosity mapping, whole-exome sequencing; a homozygous deletion in the ESPN gene was found in a large, extended, consanguineous Pakistani family with prelingual hearing loss, vestibular dysfunction, and retinal dystrophy consistent with a diagnosis of Usher syndrome type 1; the disease type is called "USH1M" in this publication; previously reported dominant-acting and recessive ESPN mutations cause non-syndromic deafness; the gene product is an actin-bundling protein which plays a role in transduction in mechanosensory and chemosensory cells | Ahmed 18; Donaudy 06; Naz 04 |
|
NMNAT1, LCA9, PNAT1; 204000, 608553, 608700 |
1p36.22 | recessive Leber congenital amaurosis; protein: nicotinamide nucleotide adenylyltransferase 1 [Gene] | linkage mapping, whole-exome sequencing; a homozygous NMNAT1 mutation was found in the original, consanguineous, LCA9 Pakistani family and additional mutations found in many other LCA families; common findings include early-onset optic atrophy and neonatal degeneration of the central retina (colobomas); the NMNAT1 protein is a nuclear isoform of the rate-limiting enzyme in NAD+ synthesis and may serve a neuroprotective role | Chiang 12; Falk 12; Keen 03; Koenekoop 12; Perrault 12 |
|
MFN2, CMT6, CMT2A2, MARF; 608507, 609260, 601152 |
1p36.22 | dominant optic atrophy with neuropathy and myopathy; dominant Charcot-Marie-Tooth disease; protein: mitofusin 2 [Gene] | candidate gene; dominant mutation in a large Turkish family; affected family members have early-onset optic atrophy and adult-onset neuropathy; dominant-acting MFN2 mutations are a common cause of CMT and hereditary motor and sensory neuropathy; MFN2 protein is involved in fusion of mitochondria and contributes to mitochondrial morphology and distribution | Rouzier 12 |
| EMC1 | 1p36.13 | recessive retinitis pigmentosa; protein: ER membrane protein complex subunit 1 [Gene] | homozygosity mapping, whole-exome sequencing; rare, novel homozygous missense mutation in a multiplex Saudi RP family and the same homozygous mutation in an isolated Saudi RP patient; protein is a component of the endoplasmic reticulum with unknown function | Abu-Safieh 13 |
|
PLA2G5; 601192 |
1p36.13-p36.12 | recessive benign fleck retina; protein: phospholipase A2 group V [Gene] | homozygosity mapping, whole-exome sequencing; homozygous mutation identified in a consanguineous family of South Asian origin; biallelic mutations found in additional families; symptoms include benign yellow-white retinal lesions or flecks with otherwise normal retinal findings; the PLA2G5 protein is a secretary phospholipase which plays a role in phagocytosis of photoreceptor outer segment discs by RPE cells | Sergouniotis 11 |
|
SLC66A1, LAAT1, PQLC2; 268000, 614760 |
1p36.13 | recessive retinitis pigmentosa; protein: solute carrier family 66 member 1 [Gene] | candidate gene; a screen of 433 solute carrier genes in a large cohort of Israeli patients with inherited retinal diseases revealed different homozygous variants in SLC66A1 in two consanguineous families with RP; mutations in several solute carrier genes cause RP and related conditions including SLC37A3 and SLC39A12 implicated in this study | Millo 22 |
|
DHDDS, RP59; 268000, 608172, 613861 |
1p36.11 | recessive retinitis pigmentosa; protein: dehydrodolichyl diphosphate synthetase [Gene] | homozygosity mapping, whole-exome sequencing; homozygous Lys42Glu mutation in an American family and 15 Israeli families of Ashkenazi Jewish origin; may account for 10% of recessive RP in Israel; the DHDDS gene is widely expressed, including in rod and cone photoreceptors; the protein is an enzyme in the dolichol synthesis pathway and dolichol is involved in biosynthesis of N-linked oligosaccharide chains on proteins such as rhodopsin; this mutation causes RP only but mutations in other genes affecting oligosaccharide synthesis cause multi-system disorders | Haeuptle 09; Zelinger 11; Züchner 11 |
|
PPT1, CLN1, PPT; 256730, 600722 |
1p34.2 | recessive syndromic retinopathy; recessive Batten disease; recessive neuronal ceroid lipofuscinosis 1; protein: palmitoyl-protein thioesterase 1 [Gene] | positional cloning; multiple allelic variants in the PPT1 gene cause recessive syndromic neuronal disorders broadly known as Batten disease or ceroid lipofuscinoses, often including early-onset retinal degeneration and/or retinitis pigmentosa; the PPT1 gene product is involved in catabolism of lipid-containing proteins during lysosomal degradation; other ceroid lipofuscinosis genes with substantial retinal involvement include CLN3 | Atiskova 19; Das 98; Mitchison 98; Vesa 95 |
|
ELOVL1; 611813 |
1p34.2 | dominant optic atrophy, deafness, ichthyosis and neuronal disorders; protein: elongation of very long fatty acids-like protein 1 [Gene] | whole-exome sequencing; identical, de novo, dominant ELOVL1 mutations were identified in two unrelated Polish children with neurologic disease, dermatologic findings, dysmorphic features, deafness and visual abnormalities including optic atrophy; similar findings were reported by independent investigators; disease features overlap with recessive ELOVL4 mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance | Kutkowska-Kazmierczak 18; Mueller 19 |
|
POMGNT1, MDDGA3, MDDGB3, MDDGC3, RP76; 253280, 268000, 606822, 613151, 613157 |
1p34.1 | recessive retinitis pigmentosa; protein: protein O-linked acetylglucosaminyltransferase 1 (beta 1,2-) [Gene] | whole-exome sequencing; homozygous and compound heterozygous POMGNT1 mutations identified in Italian and Chinese families with recessive RP but no other apparent symptoms; other recessive mutations in POMGNT1 cause congenital brain and eye anomalies (Walker-Warburg syndrome or muscular dystrophy-dystroglycanopathy); the POMGNT1 protein is in the O-mannosylation glycosylation pathway and localizes to photoreceptor basal bodies | Xu 16 |
|
RPE65, LCA2, RP20, RP87; 180069, 204000, 204100, 268000, 618697 |
1p31.2 | recessive Leber congenital amaurosis; recessive retinitis pigmentosa; dominant retinits pigmentosa with choroidal invlovlement; protein: retinal pigment epithelium-specific 65 kD protein [Gene] | candidate gene; accounts for 2% of recessive RP and 6 to 16% of LCA; same as RPE65-/- Swedish Briard-Beagle dog; protein is necessary for production of 11-cis-vitamin A; 9-cis-retinal restores visual function in mouse model; successful gene therapy in dog; in same pathway as LRAT; dominant mutation in large Irish family with several members diagnosed with choroideremia | Acland 01; Aguirre 98; Bowne 11; Gu 97; Hanein 04; Lotery 00; Marlhens 97; Morimura 98; Redmond 98; Van Hooser 00; Veske 99 |
|
ABCA4, ABCR, ARMD2, CORD3, RP19, STGD1; 120970, 153800, 248200, 268000, 601691, 601718, 603075, 604116 |
1p22.1 | recessive Stargardt disease, juvenile and late onset; recessive macular dystrophy; recessive retinitis pigmentosa; recessive fundus flavimaculatus; recessive cone-rod dystrophy; protein: ATP-binding cassette transporter - retinal [Gene] | linkage mapping, candidate gene; may be involved in age-related macular degeneration; same as ROS1.2 and rim protein, expressed in rod outer segment and foveal cones; ABCA4 mutation may increase severity of STGD3; flippase for all-trans retinal and N-retinylidene-PE | Allikmets 97; Allikmets 97a; Allikmets 00; Cremers 98; Gerber 95; Gerber 98; Kaplan 93; Lewis 99; Martínez-Mir 97; Martínez-Mir 98; Maugeri 00; Molday 00; Nasonkin 98; Rozet 98; Stone 98; Sun 97; Sun 99; Weng 99; Zhang 99 |
|
COL11A1, STL2; 120280, 154780, 604841 |
1p21.1 | dominant Stickler syndrome, type II; dominant Marshall syndrome; protein: collagen, type XI, alpha 1 [Gene] | linkage mapping, candidate gene; Stickler syndrome involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; retinal findings are considered a consequence of vitreous abnormalities; see also COL2A1 and COL9A1 | Annunen 99; Richards 96 |
|
GNAT2, ACHM4; 139340 |
1p13.3 | recessive achromatopsia; protein: guanine nucleotide binding protein (G protein) cone-specifc transducin alpha subunit [Gene] | candidate gene; symptoms include total color blindness and other cone-related abnormalities (rod monochromacy); GNAT2 accounts for a minor fraction of achromatopsia cases whereas CNGA3 accounts for 20-30% and CNGB3 accounts for 40-50% | Aligianis 02; Kohl 02 |
|
CLCC1, RP32; 268000, 609913, 617539 |
1p13.3 | recessive retinitis pigmentosa, severe; protein: chloride intracellular ion channel (CLIC)-like protein 1 [Gene] | linkage mapping, whole-exome sequencing; a homozygous missense mutation in CLCC1 was identified in seven Pakistani Punjab families and a British-Bangladeshi family with early onset, severe RP; the locus was originally mapped to 1p and named RP32; zebrafish and mouse CLCC1 knockout models have retinal findings consistent with the human disease; the CLCC1 protein is highly expressed in retina and functions as an intracellular chloride channel | Li 18; Zhang 05 |
|
DRAM2, TMEM77; 613360 |
1p13.3 | recessive macular dystrophy, early adult onset; protein: DNA-damage regulated autophagy modulator 2 [Gene] | homozygosity mapping, whole-exome sequencing; homozygous or compound heterozygous mutations found in five unrelated Pakistani, Indian and European families with adult-onset retinal dystrophy and early macular involvement; the DRAM2 gene product is a widely-expressed, transmembrane protein which initiates autophagy, that is, degradation of cells and cellular components, and may play a role in photoreceptor disc recycling | El-Asrag 15 |
|
PRPF3, HPRP3, PRP3, RP18; 268000, 601414, 607301 |
1q21.2 | dominant retinitis pigmentosa; protein: pre-mRNA processing factor 3 [Gene] | linkage mapping, candidate gene; English and Danish families; early onset night blindness; recurrent Thr494Met mutation; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF6, PRPF8 (RP13) and PRP31 (RP11) | Chakarova 02; Heng 98; Xu 96a; Xu 98 |
|
ENSA; 603061 |
1q21.3 | recessive retinitis pigmentosa; protein: endosulfine alpha protein [Gene] | exome sequencing; compound heterozygous loss-of-function variants in ENSA found in an isolated patient with RP | Yi 20 |
|
SEMA4A, CORD10, SEMAB, RP35; 120970, 268000, 607292, 610282, 610283 |
1q22 | dominant retinitis pigmentosa; dominant cone-rod dystrophy; protein: semaphorin 4A [Gene] | candidate gene; several affected Pakistani families; semaphorins are a conserved family of proteins involved in neuronal development and/or immune response; SEMA4A is a transmembrane semaphorin (also called semaphorin B) which enhances T-cell activation; homozygous knockout mice have severe retinal degeneration | Abid 06; Kumanogoh 02; Rice 04 |
|
CORD8; 120970, 605549 |
1q23.1-q23.3 | recessive cone-rod dystrophy [Gene] | linkage mapping; consanguineous Pakistani family | Ismail 06; Khaliq 00 |
|
ATF6, ACHM7, ATF6A; 605537, 616517 |
1q23.3 | recessive achromatopsia; protein: activating transcription factor 6 [Gene] | homozygosity mapping, whole-exome sequencing; homozygous and compound heterozygous mutations in ATF6 have been identified in more than ten families with achromatopsia, including a consanguineous Pakistani family and an isolated case, suggesting this is a common cause of disease; achromatopsia is a congenital or early-onset cone dysfunction disorder; symptoms include color blindness, photophobia, nystagmus and reduced visual acuity; the ATF6 protein is a transmembrane transcription factor, involved in the unfolded protein response, which localizes throughout the neural retina and RPE | Ansar 15; Kohl 15; Xu 15 |
|
HMCN1, ARMD1, FBLN6; 603075, 608548 |
1q25.3-q31.1 | dominant macular dystrophy, age-related; protein: hemicentin 1 (fibulin 6) [Gene] | linkage mapping, candidate gene; a Gln5345Arg mutation that segregates with disease in one family is the probable cause of ARMD1; possible association with AMD but CFH is the more likely reason for association; fibulins are extracellular matrix proteins with multiple EGF domains, others include EFEMP1 and FBLN5 | Klein 98; Schultz 03; Weeks 01 |
|
CFH, ARMD4, ARMS1, HF1; 134370, 603075, 609814, 610698 |
1q31.3 | age-related macular degeneration, complex etiology; recessive drusen, early-onset; protein: complement factor H [Gene] | linkage mapping, association study; a common histidine allele at a polymorphic Tyr402His site in control module 7 of CFH increases the life-time risk of AMD 2-to-7 fold; extended haplotypes including other complement genes also contribute; CFH and/or the haplotypes probably account for the AMD linkage peak at this location; rare recessive mutations in CFH cause nephropathy and hemolytic-uremic syndrome; mutations in trans to the His 402 variant cause early-onset drusen; AMD is also associated with complement genes C2, CFB and C3 | Boon 08; Edwards 05; Hageman 01; Hageman 05; Haines 05; Hughes 06; Klein 05; Rodríguez de Córdoba 04; Zareparsi 05 |
|
CRB1, LCA8, RP12; 204000, 268000, 600105, 604210, 613835 |
1q31.3 | recessive retinitis pigmentosa with para-arteriolar preservation of the RPE (PPRPE); recessive retinitis pigmentosa; recessive Leber congenital amaurosis; dominant pigmented paravenous chorioretinal atrophy; protein: crumbs homolog 1 [Gene] | linkage mapping; homologous to Drosophila crumbs protein, possibly involved in cell-cell interactions and cell polarity; homozygous or compound heterozygous mutations in 10 unrelated patients; causes 9 to 13% of LCA; symptoms may include Coats-like exudative vasculopathy; mutations result in thick retina with abnormal lamination | den Hollander 99a; den Hollander 01; Hanein 04; Heckenlively 82; Jacobson 03; Leutelt 95; Lotery 01; Lotery 01a; McKay 05; van Soest 94 |
|
ADIPOR1, PAQR1; 607945 |
1q32.1 | recessive retinitis pigmentosa, syndromic, Bardet-Biedl like; dominant retinitis pigmentosa; protein: adiponectin receptor 1 [Gene] | whole-exome sequencing; a homozygous frameshift mutation in ADIPOR1 was identified in a patient with RP and intellectual disability in a consanguineous Indian family, and a heterozygous missense mutation was identified in a large Chinese family with dominant, non-syndromic RP; ADIPOR1 is expressed in photoreceptors and RPE, and the protein is involved in uptake and retention of DHA | Xu 16a; Zhang 16 |
|
RD3, C1orf36, LCA12; 180040, 204000, 610612 |
1q32.3 | recessive Leber congenital amaurosis; protein: RD3 protein [Gene] | animal model, candidate gene; homozygous mutations in one LCA family; rd3 mouse has a recessive mutation in this gene which causes retinal degeneration with intact photoreceptors at birth but otherwise early onset and rapid progression; protein of unknown function | Chang 93; Friedman 06 |
|
NEK2, NLK1, RP67; 268000, 604043, 615565 |
1q32.3 | recessive retinitis pigmentosa; protein: NIMA (never in mitosis gene A)-related kinase 2 [Gene] | whole-genome sequencing; a homozygous frameshift mutation detected in a Japanese RP patient and the same mutation (heterozygous) in a second patient; the NEK2 gene product is a widely-expressed ciliary-associated protein involved in cell division and implicated in several cancers; NEK2 is expressed in retina and inactivation in zebrafish results in photoreceptor defects | Nishiguchi 13 |
|
FLVCR1, AXPC1; 609033, 609144 |
1q32.3 | recessive retinitis pigmentosa with posterior column ataxia (PCARP); protein: feline leukemia virus subgroup C cellular receptor 1 [Gene] | linkage mapping, sequencing; linkage mapping in a Dutch-German family and a Japanese family; PCARP is a rare, childhood-onset neurodegenerative syndrome involving spinal cord degeneration and RP; FLVR1 expression is most abundant in retina and secondarily in spinal cord and brain; function of the FLVCR1 protein is unknown but may involve heme/iron homeostasis | Higgins 99; Ishiura 11; Rajadhyaksha 10 |
|
USH2A, RP39; 268000, 276901, 608400, 613809 |
1q41 | recessive Usher syndrome, type 2a; recessive retinitis pigmentosa; protein: usherin [Gene] | linkage mapping, candidate gene; usherin is a basement membrane protein, with laminin EGF and fibronectin type III domains, found in many tissues including capillary and structural basement membranes in retina and inner ear; causes 50 to 80% of USH type 2 and 10 to 15% of recessive RP; common ancestral c.2299delG mutation of European origin with atypical phenotype; Cys759Phe mutation found in 4 to 5% of recessive RP without hearing loss; an additional 51 exons have been identified; common c.4338delCT founder mutation in French Canadians and Acadians as is another in USH1C | Bhattacharya 02; Ebermann 09a; Dreyer 01; Eudy 98; Kimberling 90; Kimberling 95; Lewis 90; Liu 99; Rivolta 00; Saouda 98; Seyedahmadi 04; van Wijk 04; Weston 00 |
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SDCCAG8, BBS16, CCCAP, NPHP10, SLSN7; 266900, 613524, 613615 |
1q43 | recessive nephronophthisis, ciliopathy-related; recessive Bardet-Biedl syndrome; protein: serologically-defined colon cancer antigen 8 [Gene] | homozygosity mapping, whole-exome sequencing; 12 distinct mutations in 10 families; nephronophthisis-related ciliopathies involve dysplasia or degeneration of kidney, retina and/or cerebellum; BBS cases have early renal disease but not polydactyly; SDCCAG8 protein, first identified as a colon cancer antigen, localizes to centrioles and interacts with other ciliopathy-associated proteins including OFD1, and plays a broad role in kidney, retina and brain development | Chaki 12; Otto 10; Schaefer 11 |
|
OR2W3; 616729 |
1q44 | dominant retinitis pigmentosa (not likely); protein: olfactory receptor family 2 subfamily W member 3 [Gene] | whole exome sequencing; a single-missense mutation identified in two independent Chinese families by exome sequencing but persuasive evidence indicates this mutation does not cause RP; the OR2W3 protein is in the olfactory receptor family but olfactory receptors have functions in addition to olfaction and ORF2 is expressed in multiple tissues including thyroid and RPE cells; the OR2W3 transcript overlaps with TRIM58, a larger gene of unknown function | Ma 15; Sharon 16; Zhang 15 |
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Chromosome 2 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
NBAS, NAG, ILFS2, SOPH; 608025, 614800, 616483 |
2p24.3 | recessive optic atrophy and retinal dystrophy, syndromic; protein: neuroblastoma amplified sequence [Gene] | whole-exome sequencing; recessive mutations in NBAS reported in more than 40 patients with retinal dystrophy, optic atrophy and multisystem disorders affecting liver, bone, connective tissue and immune system, leading to severe growth deficiency but normal intelligence; symptoms include Pelger-Huët anomaly in neutrophil granulocytes; common in the isolated Asian Yakut population; gene product may be involved in nonsense-mediated decay control and/or Golgi-ER vesicle trafficking | Haack 15; Maksimova 10; Segarra 16 |
|
AGBL5, RP75; 268000, 615900, 617023 |
2p23.3 | recessive retinitis pigmentosa; protein: ATP/GTP binding protein-like 5 [Gene] | whole exome sequencing; a homozygous missense mutation was identified in AGBL5 in two siblings with non-syndromic RP in a consanguineous Turkish family; the authors conclude this is a candidate RP gene; the ABGL5 protein is involved in posttranslational modification of tubulin, a central component of microtubules | Kastner 15 |
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ZNF513, RP58; 268000, 613598, 613617 |
2p23.3 | recessive retinitis pigmentosa; protein: zinc finger protein 513 [Gene] | linkage mapping, candidate gene; mapping in a consanguineous Pakistani family; zinc finger genes are a large family of expression factors, many with unknown specificity; ZNF513 is expressed in the retina, including photoreceptors; knockdown in zebrafish affects eye morphology and leads to loss of photoreceptors suggesting a role in retinal development and maintenance | Li 10; Naz 10 |
|
IFT172, NPHP17, RP71, SRTD10; 268000, 607386, 615630, 616394 |
2p33.3 | recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: intraflagellar transport protein 172 [Gene] | whole-exome sequencing; clinical consequences of mutations in IFT172 range from non-syndromic RP to Bardet-Biedl syndrome to complex skeletal, renal, hepatic, retinal and cerebellar syndromes (also called Jeune and Mainzer-Saladino syndromes); variable clinical phenotypes do not clearly correspond to different mutation types; the IFT172 protein is involved in intraflagellar transport and plays a role similar to other proteins involved in complex, highly variable ciliopathies | Bujakowska 15 |
|
PCARE, C2orf71, RP54; 268000, 613425, 613428 |
2p23.2 | recessive retinitis pigmentosa; protein: photoreceptor cilium actin regulator [Gene] | homozygosity mapping, candidate gene; Dutch, Israeli and other consanguineous families; C2orf71 was renamed PCARE in 2021; C2orf71 was an open reading frame later found to code for PCARE protein; the gene is highly expressed in retina, primarily in photoreceptors, and the protein localizes to primary cilia; morpholino knockdown in zebrafish produces visual defects; the PCARE gene is highly variable complicating mutation screening; mutations in this gene cause progressive retinal atrophy, rcd4, in Gordon Setter and Irish Setter dogs; a mutation in PCARE may modify Usher syndrome caused by CEP250 | Collin 10; Downs 12; Nishimura 10; Sergouniotis 10 |
|
EFEMP1, DHRD, MTLV, FBLN3; 126600, 601548 |
2p16.1 | dominant radial, macular drusen; dominant Doyne honeycomb retinal degeneration (Malattia Leventinese); protein: EGF-containing fibrillin-like extracellular matrix protein 1 (fibulin 3) [Gene] | linkage mapping, candidate gene; Arg345Trp mutation found in all affected individuals to date; normal protein is secreted from RPE but mutant protein is misfolded and retained in RPE; both proteins accumulate between the RPE and drusen, but not within drusen; possible model for age- related macular degeneration; fibulins are extracellular matrix proteins with multiple EGF domains, others include FBNL5 and FBLN6; knock-in mouse shows AMD phenotype | Edwards 98; Héon 96; Héon 96a; Kermani 99; Fu 07; Gregory 96; Marmorstein 02; Stone 99 |
|
FAM161A, RP28; 268000, 606068, 613596 |
2p15 | recessive retinitis pigmentosa; protein: family with sequence similarity 161 member A [Gene] | homozygosity mapping, candidate gene; consanguineous Indian family, and Israeli and German families; FAM161A codes for a protein of unknown function expressed in retina, brain and testis, but largely localized to photoreceptors | Bandah-Rozenfeld 10a; Gu 99; Kumar 04; Langmann 10 |
|
WDPCP, BBS15, FRITZ; 209900, 613580 |
2p15 | recessive Bardet-Biedl syndrome; protein: WD repeat-containing planar cell polarity effector [Gene] | candidate gene; homozygous mutation in one BBS family; heterozygous variants may act as modifiers of BBS and Meckel-Gruber syndrome; protein plays a role in planar cell polarity during embryogenesis and may affect ciliogenesis | Kim 10 |
|
ALMS1, ALSS; 203800 |
2p13.1 | recessive Alström syndrome; protein: ALMS1 protein [Gene] | homozygosity and linkage mapping, candidate gene; symptoms include RP (cone-rod dystrophy), cardiomyopathy, obesity and diabetes (similar to BBS); gene identified in balanced chromosomal translocation; widely expressed gene with product of unknown function; possible model for age- related macular degeneration | Collin 97; Collin 99; Hearn 02; Macari 98 |
|
LRRTM4; 610870 |
2p12 | dominant macular degeneration; protein: leucine rich repeat transmembrane neuronal 4 [Gene] | whole-genome sequencing; an LRRTM4 missense mutation was found in four affected members of a Japanese family with autosomal dominant RP; patients have an atypical absence of ON-bipolar cell response; the LRRTM4 protein product localizes to GABAergic synapses in rod bipolar cells and may be involved in synapse assembly | Kawamura 18 |
|
SNRNP200, ASCC3L1, BRR2, HECIC2, RP33; 268000, 601664, 610359 |
2q11.2 | dominant retinitis pigmentosa; protein: small nuclear ribonucleoprotein 200kDa (U5) [Gene] | linkage mapping, candidate gene; Chinese families (one is the family in which RP33 was mapped), in addition to several European families; also known as activating signal cointegrator I complex subunit 3-like 1, the gene is widely expressed and codes for a splice-complex protein as do several other dominant RP genes | Benaglio 11; Li 09; Zhao 09; Zhao 06 |
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CNNM4, ACDP4, LOC619531; 217080, 607805 |
2q11.2 | recessive cone-rod dystrophy and amelogenesis imperfecta syndrome; protein: cyclin M4 [Gene] | linkage mapping, candidate gene; also called Jalili syndrome, with cone-rod dystrophy and amelogenesis imperfecta (abnormal tooth enamel and development); more than 7 independently-ascertained families including a consanguineous Arab family and a Kosovo family; cyclin M4 protein is involved in metal ion transport, with expression in neural retina and developing teeth suggesting a connection between tooth biomineralization and retinal function | Downey 02; Jalili 89; Michaelides 04; Parry 09; Polok 09 |
|
CNGA3, ACHM2, CNCG3, RMCH2; 216900, 600053 |
2q11.2 | recessive achromatopsia; recessive cone-rod dystrophy; protein: cone photoreceptor cGMP-gated cation channel alpha subunit [Gene] | homozygosity mapping, candidate gene; clinical findings include total color blindness and other cone-related abnormalities (rod monochromacy); CNGA3 accounts for 20-30% of achromatopsia cases whereas CNGB3 accounts for up to 50% and GNAT2 accounts for a minor fraction; CNGA3 is the most common cause of achromatopsia and CORD in China | Arbour 97; Kohl 98; Kohl 02; Li 14; Nishiguchi 05; Wissinger 98; Wissinger 01 |
|
NPHP1, JBTS4, SLSN1; 256100, 266900, 607100, 609583 |
2q13 | recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; recessive Joubert syndrome; recessive Bardet-Biedl syndrome; protein: nephronophthisis 3 protein [Gene] | linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; recurrent 290kb NPHP1 deletion in most nephronophthisis cases; NPHP1 protein interacts with NPHP3 and NPHP4 proteins | Antignac 93; Caridi 98; Hildebrandt 97; Lindstrand 14; Mollet 02; Parisi 04; Saunier 97; Saunier 00 |
|
MERTK, RP38; 268000, 604705, 613862 |
2q13 | recessive retinitis pigmentosa; recessive rod-cone dystrophy, early onset; protein: c-mer protooncogene receptor tyrosine kinase [Gene] | candidate gene; several affected families and a consanguineous Middle Eastern family; human ortholog of the mouse Mertk gene; causes defective phagocytosis of photoreceptor outer segments by the RPE and retinal degeneration in the RCS rat; successful gene therapy in rat; expressed in multiple tissues including RPE/sclera; a novel 91 bp deletion in MERTK accounts for 30% of RP cases in the Faroe Islands | D'Cruz 00; Gal 00; Mackay 10; Ostergaard 11; Vollrath 01 |
|
BBS5; 209900, 603650 |
2q31.1 | recessive Bardet-Biedl syndrome; protein: flagellar apparatus-basal body protein DKFZp7621194 [Gene] | linkage mapping, candidate gene; mutations found in several families with BBS mapped to 2q31; the BBS5 protein, identified by proteomics analysis of flagellar proteins, is a highly-conserved component of flagella and cilia, and may interact with BBS1; may account for 2% of BBS cases | Beales 01; Li 04a; Young 99 |
|
CERKL, RP26; 268000, 608380, 608381 |
2q31.3 | recessive retinitis pigmentosa; recessive cone-rod dystrophy with inner retinopathy; protein: ceramide kinase-like protein [Gene] | linkage mapping, candidate gene; two Spanish families with the same homozygous mutation and families with other mutations; ceramide kinases are involved in neuronal cell survival and apoptosis; CERKL is expressed in retinal ganglion cells among other tissues; CERKL mutations cause widespread retinal degeneration with maculopathy; a founder splice-site mutation in CERKL accounts for 33% of recessive retinal degeneration cases among Yemenite Jews | Aleman 09; Auslender 07; Bayés 98; Tuson 04 |
|
NEUROD1, MODY6; 601724, 606394 |
2q31.3 | recessive retinitis pigmentosa; protein: neuronal differentiation protein 1 [Gene] | whole-exome sequencing; a homozygous missense mutation identified in two siblings in a consanguineous Han Chinese family with non-syndromic retinitis pigmentosa; homozygous null mutations in NEUROD1 cause early onset diabetes, neurologic abnormalities and retinal degeneration; heterozygous mutations associated with type II diabetes; the NEUROD1 protein is a transcription factor expressed in diverse neuronal cells | Wang 15 |
| (- - -) | 2q33.1-q24.2 | dominant cone-rod dystrophy | linkage mapping; French family with maximum lod score of 2.9; candidate genes in region excluded by sequencing | Manes 11 |
|
TMEM237, ALS2CR4, JBTS14; 213300, 614423, 614424 |
2q33.1 | recessive Jobert syndrome; protein: transmembrane protein 237 [Gene] | homozygosity mapping, whole-exome sequencing; homozygous mutation in Canadian Hutterite families with Joubert syndrome and other mutations in additional families; symptoms of Joubert syndrome include RP, polydactyly and brain abnormalities; the TMEM237 protein localizes to the ciliary transition zone (TZ) in multiple tissues, including photoreceptors, is a component of a complex interaction network in the TZ, and plays a role in ciliogenesis, gastrulation and Wnt signaling | Huang 11 |
|
KCNJ13, LCA16, SVD; 204000, 193230, 603208, 614186 |
2q37.1 | dominant vitreoretinal degeneration, snowflake; recessive Leber congenital amaurosis; protein: inwardly-rectifying potassium channel subfamily J member 13 [Gene] | linkage mapping, candidate gene; dominant vitreoretinal disease in an American family of European origin with developmental and progressive abnormalities affecting multiple tissues of the eye including early-onset cataracts, retinal deposits and retinal detachment; recessive LCA in two consanguineous families without other ocular abnormalities; protein is a member of the Kir family (Kir7.1) of inwardly-rectifying potassium channels often involved in maintaining resting membrane potential | Hejtmancik 08; Jiao 04a; Lindstrand 14; Sergouniotis 11a |
|
SAG, RP47, RP96; 181031, 258100, 268000, 620228, 613758 |
2q37.1 | recessive Oguchi disease; recessive retinitis pigmentosa; dominant retinitis pigmentosa; protein: arrestin (s-antigen) [Gene] | candidate gene; CSNB and fundus pallor in Japanese primarily; recessive RP in Japanese; see also GRK1; a dominant-acting SAG Cys147Phe missense mutation is a common cause of adRP in Hispanic families in the Southwestern United States | Fuchs 95; Maw 95; Nakazawa 98; Sullivan 17; Wada 96 |
|
SPP2, SPP24; 602637 |
2q37.1 | dominant retinitis pigmentosa; protein: secreted phosphoprotein 2 [Gene] | linkage mapping, whole-exome sequencing; a rare missense variant identified in four affected members of a Chinese family with dominant RP; the variant is possibly damaging; overexpression in zebrafish causes an RP-like disorder; the SPP2 gene is widely expressed; the gene product is a secreted phosphoprotein of uncertain function | Liu 15 |
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Chromosome 3 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
TRNT1, SIFD; 612907, 616084 |
3p26.2 | recessive retinitis pigmentosa with erythrocytic microcytosis; recessive retinitis pigmentosa, non-syndromic; protein: CCA adding tRNA nucleotidyl transferase 1 [Gene] | whole-exome sequencing; recessive mutations in TRNT1 cause a spectrum of diseases including sideroblastic anemia with immunodeficiency, fevers and developmental delay (SIFD), SIFD with RP, and non-syndromic RP; partially functional (hypomorphic) TRNT1 mutations cause RP with erythrocytic abnormalities; the TRNT1 protein is required for tRNA function and is essential for protein synthesis | Chakraborty 14; DeLuca 16 |
|
USH2B; 605472 |
not 3p24.2-p23 | recessive Usher syndrome, type 2 [Gene] | linkage exclusion; mapped to 3q in a consangeneous Tunisian family but later identified as a mutation in ADGRV1 | Hmani 99; Hmani-Aifa 09; Pieke-Dahl 93 |
|
SLC4A7; 603353 |
3p24.1 | recessive rod-cone dystrophy; protein: solute carrier (sodium bicarbonate transporter) family 4 member 7 protein [Gene] | exome sequencing; homozygous SLC4A7 frameshift mutations found in an isolated male with late onset, slowly progressing CORD | Ahn 20 |
|
LZTFL1, BBS17; 606568 |
3p21.31 | recessive Bardet-Biedl syndrome with developmental anomalies; protein: leucine zipper transcription factor like-1 [Gene] | homozygosity mapping, whole-exome sequencing; consanguineous family of Algerian descent; affected individuals have situs inversus and insertion polydactyly in addition to other BBS features; LZTFL1 protein is a negative regulator of the ciliary-associated BBS protein complex, the BBSome, and affects ciliary trafficking | Marion 12; Seo 11 |
|
GNAT1, CSNBAD3; 139330, 310500, 610444 |
3p21.31 | dominant congenital stationary night blindness, Nougaret type; recessive congenital stationary night blindness; protein: rod transducin alpha subunit [Gene] | candidate gene; Gly38Asp mutation in a large French family; homozygous recessive mutation in a consanguineous Pakistani family; attenuates visual signaling and may affect taste perception | Dryja 96; Maumenee-Hussels 96; Muradov 00; Naeem 12 |
|
TREX1, AGS1, CHBL, CRV, RVCL; 192315, 225750, 606609, 610448 |
3p21.31 | dominant retinal vasculopathy with cerebral leukodystrophy; dominant Aicardi-Goutiere syndrome 1, dominant chilblain lupus; protein: three-prime repair exonuclease 1 [Gene] | linkage mapping, candidate gene; mapped in Dutch, Chinese and American families; retinal vasculopathy and cerebral leukodystrophy are progressive and have onset in middle age; TREX1 protein is a major 3'-5' DNA exonuclease that performs a proofreading function; symptoms of related disorders include microangiopathy, aneurysms and telangiectasia of retinal capillaries, often accompanied by numbness and cold sensitivity in fingers (Raynaud phenomenon), and CNS degeneration | Grand 88; Jen 97; Ophoff 01; Richards 07 |
|
MAPKAPK3; 602130 |
3p21.2 | dominant Martinique retinal dystrophy and retinitis pigmentosa; protein: mitogen-activated protein kinase-activated protein kinase 3 [Gene] | whole-exome sequencing; symptoms of Martinique retinal dystrophy, also called Martinique crinkled retinal pigment epitheliopathy (MCRPE), include late-onset "dry desert" fundus findings, changes in RPE cells and Bruch's membrane, and RP subsequently; the disease occurs in a large, multi-generational family from the West Indies Islands; a single, dominant-acting, MAPKAPK3 Leu173Pro mutation was identified in the family; the MAPKAP3 gene product is a serine/threonine protein kinase highly expressed in RPE with a role in p38 signaling in cellular metabolism and stress response | Meunier 16 |
|
ATXN7, ADCA2, OPCA3, SCA7; 164500 |
3p14.1 | dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration; protein: ataxin 7 [Gene] | linkage mapping, candidate gene; Moroccan, Belgian, French, Swedish, American and African-American families; shows anticipation with expanding CAG repeat in coding sequence of protein with unknown function; regional retinal dysfunction, cone-rod type | Aleman 02; Benomar 95; David 97; Del Favero 98; Gouw 95; Holmberg 95 |
|
PROS1, THPH5; 176880, 612336 |
3q11.1 | recessive retinitis pigmentosa, juvenile; protein: vitamin K-dependent protein S [Gene] | exome sequencing; homozygous PROS1 mutations found in two unrelated, consanguineous Pakistani families with juvenile, non-syndromic RP | Bushehri 19 |
|
ARL6, BBS3, RP55; 209900, 268000, 608845, 613575 |
3q11.2 | recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: ADP-ribosylation factor-like 6 [Gene] | homozygosity and linkage mapping, candidate gene; Bedouin, Saudi, American and Canadian families; mild phenotype with normal IQ, reversible obesity and polydactyly of the feet only in many patients; BBS proteins, probably including ARL6, play roles in ciliary function, and homologous sequences are found in ciliated microorganisms; four siblings in a consanguineous Saudi Arabian family are homozygous for an ARL6 missense mutation but have RP only and no BBS findings | Aldamesh 09; Beales 97; Beales 01; Chiang 04; Fan 04; Ingley 99; Jacobs 99; Sheffield 94; Woods 99; Young 98 |
|
IMPG2, RP56, SPARCAN; 268000, 607056, 613581 |
3q12.3 | recessive retinitis pigmentosa; protein: interphotoreceptor matrix proteoglycan 2 [Gene] | homozygosity mapping, candidate gene; mapping in a Dutch family and an Iraqi Jewish family with additional mutations in several populations; generally early onset RP but macuopathy in one case; protein is a component of the retinal intercellular matrix | Bandah-Rozenfeld 10 |
|
IQCB1, NPHP5, SLSN5; 609237, 609254 |
3q13.33 | recessive Senior-Loken syndrome; recessive Leber congenital amaurosis; protein: IQ motif containing B1 protein [Gene] | linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; homozygous mutations also found in several LCA patients, some of whom, but not all, later developed kidney disease; IQCB1 protein interacts with RPGR and calmodulin proteins in photoreceptor connecting cilia | Estrada-Cuzcano 11; Otto 05 |
|
RHO, CSNBAD1, OPN2, RP4; 180380, 268000, 310500, 610445 |
3q22.1 | dominant retinitis pigmentosa; dominant congenital stationary night blindness; recessive retinitis pigmentosa; protein: rhodopsin [Gene] | linkage mapping, candidate gene; accounts for 30 to 40% of autosomal dominant RP; more than 100 distinct mutations but RhoPro23His causes 10% of adRP in US Caucasians; 'RP4' withdrawn; naturally occurring Thr4Arg mutation in English Mastiff dog | Dryja 90; Dryja 90a; Dryja 91; Dryja 93; Farrar 90a; Kijas 02; McWilliams 89; Nathans 84; Rosenfeld 92 |
|
NPHP3, SLSN3; 604387, 606995, 608002 |
3q22.1 | recessive Senior-Loken syndrome; recessive nephronophthisis, adolescent; protein: nephronophthisis 3 protein [Gene] | linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; NPHP3 protein interacts with NPHP1 protein; same gene affected in pcy mouse | Olbrich 03; Omran 00; Omran 01; Omran 02 |
| RP5 | same as RHO | not distinct from RHO/RP4 | linkage mapping, mutation screening; mapping error; 'RP5' withdrawn | Farrar 92 |
|
CLRN1, RP61, USH3, USH3A; 268000, 276902, 606397, 614180 |
3q25.1 | recessive Usher syndrome, type 3; recessive retinitis pigmentosa; protein: clarin-1 [Gene] | linkage mapping, candidate gene; clarin-1 is a novel, 4-transmembrane protein with a possible role in hair cell and photoreceptor synapses; accounts for 40% of Usher syndrome in Finland; possible digenic deafness with MYO7A; recessive RP with no hearing loss in two consanguineous Pakistani families | Adato 99; Adato 02; Joensuu 01; Khan 11; Sankila 95 |
|
SLC7A14, RP68; 268000, 615720, 615725 |
3q26.2 | recessive retinitis pigmentosa; protein: solute carrier family 7 member 14 [Gene] | whole-exome sequencing; a homozygous SLC7A14 missense mutation detected in a Chinese RP family and additional missense mutations found in other Chinese families; mutations in SLC7A14 account for 2% of autosomal recessive RP in these patients; SLC7A14 is expressed in retina and the central nervous system; the gene product is a potential cationic transporter protein with an unknown ligand; zebrafish downregulation and a knockout mouse show a similar phenotype | Jin 14 |
|
OPA1; 125250, 165500, 605290 |
3q29 | dominant optic atrophy, Kjer type; dominant optic atrophy with sensorineural hearing loss; protein: OPA1 protein [Gene] | linkage mapping, candidate gene; gene is widely expressed and abundant in retina; protein is a dynamin-related GTPase which localizes to mitochondria; OPA1 mutations cause 30 to 50% of dominant optic atrophy; disease may be a consequence of haploinsufficiency with reduced penetrance; a Utah OPA1 family has optic atrophy, sensorioneural hearing loss, ptosis and ophthalmoplegia, and polymorphic OPA1 alleles may be associated with normal tension glaucoma | Alexander 00; Aung 02; Bonneau 95; Brown 97a; Delettre 00; Eiberg 94; Ferré 09; Johnston 97; Lunkes 95; Payne 04; Pesch 01; Seller 97; Toomes 01; Votruba 97; Votruba 98 |
|
PCYT1A; 123695 |
3q29 | recessive cone-rod dystrophy with skeletal disease; protein: phosphate cytidylyltransferease 1 choline alpha [Gene] | whole-exome sequencing; several simplex and multiplex recessive families identified with PCYT1A mutations; the disorder involves spondylometaphyseal dysplasia (SMD: short stature with vertebral and metaphyseal abnormalities) and CORD; other mutations cause muscular dystrophy without bone or retinal findings; the PCYT1A protein converts phosphocholine into cytidine diphosphate-choline, a key step in phosphatidylcholine synthesis | Hoover-Fong 14; Yamamoto 14 |
|
CEP19, C3orf34, MOSPGF; 615586, 615703 |
3q29 | recessive Bardet-Biedl syndrome; protein: centrosomal protein 19 [Gene] | linkage mapping, whole-exome sequencing; a homozygous, truncating CEP19 mutation was found in several affected members of a consanguineous, extended Pakistani family with variable polydactyly, rod-cone dystrophy and other features of Bardet-Biedl syndrome; previously, a homozygous CEP19 nonsense mutation was identified in an Arab family with morbid obesity but, apparently, without other BBS symptoms; like other BBS proteins, the CEP19 gene product localizes to centrosomes and primary cilia, and plays a role in centrosomal and ciliary function | Yildiz Bölükbasi 18 |
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Chromosome 4 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
PDE6B, CSNB3, CSNBAD2, RP40; 163500, 180072, 268000, 310500, 613801 |
4p16.3 | recessive retinitis pigmentosa; dominant congenital stationary night blindness; protein: rod cGMP phosphodiesterase beta subunit [Gene] | linkage mapping, candidate gene; same as retinal degeneration in the rd1 mouse, rd10 mouse and rcd1 Irish Setter dog; accounts for 3 to 4% of recessive RP; photoreceptor rescue with calcium-channel blocker in mouse but not dog | Altherr 92; Bateman 92; Bayés 95; Bowes 90; Chang 02; Collins 92; Farber 92; Frasson 99; Gal 94; Gal 94a; McLaughlin 93; McLaughlin 95; Pearce-Kelling 01; Piriev 98; Pittler 91; Pittler 93; Suber 93; Valverde 95; Weber 91 |
|
WFS1, DFNA38; 222300, 598500 |
4p16.1 | recessive Wolfram syndrome; dominant low frequency sensorineural hearing loss; protein: wolframin [Gene] | linkage mapping, candidate gene; symptoms of recessive disease include diabetes, optic atrophy and deafness; often associated with multiple mitochondrial deletions; symptoms of dominant disease include non-syndromic low frequency loss without profound deafness; distinct from WFS2 | Barrientos 96; Barrientos 96a; Bespalova 01; Collier 96; Inoue 98; Polymeropoulos 94; Strom 98a; Young 01 |
|
HMX1; 142992, 612109 |
4p16.1 | recessive oculoauricular syndrome; protein: H6 family homeobox protein 1 [Gene] | homozygosity mapping, candidate gene; oculoauricular syndrome involves developmental abnormalities of the outer ear, ocular anterior segment and retina leading to retinal degeneration and loss of vision at an early age; two families, a Swiss family with a homozygous HMX1 deletion and a consanguineous Pakistani family with a homozygous missense mutation, have been reported; the HMX1 protein plays an unknown role in embryogenesis | Gillespie 15; Schorderet 08 |
|
RAB28, CORD18; 120970, 612994, 615374 |
4p15.33 | recessive cone-rod dystrophy; protein: RAB28 member of RAS oncogene family [Gene] | homozygosity mapping, whole-exome sequencing; German and Moroccan-Jewish families; symptoms include progressive cone-rod dystrophy, loss of visual function, hyperpigmentation of the macula and RPE atrophy, starting in childhood or teens; RAB28 proteins localize to the photoreceptor basal body and may be involved in ciliary transport | Roosing 13 |
|
CC2D2A, JBTS9, MKS6, RP93; 216360, 612013, 612284, 612285, 619845 |
4p15.33 | recessive retinitis pigmentosa and mental retardation; recessive Joubert syndrome; protein: coiled-coil and C2 containing 2A protein [Gene] | homozygosity mapping, candidate gene; homozygous mutation in CC2D2A in a consanguineous Pakistani family with 5 retarded individuals, all with accompanying RP; the CC2D2A protein is widely expressed and may play a role in calcium-dependent signal transduction; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; related diseases caused by recessive CC2D2A mutations include COACH syndrome and Meckel syndrome | Gorden 08; Noor 08 |
|
PROM1, CORD12, MCDR2, PROML1, RP41, STGD4; 120970, 268000, 603786, 604365, 608051, 612095, 612657 |
4p15.32 | recessive retinitis pigmentosa with macular degeneration; dominant Stargardt-like macular dystrophy; dominant macular dystrophy, bull's-eye; dominant cone-rod dystrophy; protein: prominin 1 [Gene] | homozygosity mapping, candidate gene; British, Caribbean, Indian and Pakistani families; severe visual impairment with onset in childhood in recessive families; prominin is a 5-transmembrane glycoprotein associated with plasma membrane evaginations in rod outer segments; recurrent, dominant Arg377Cys (C→T) mutation in human families disrupts disk morphogenesis in mice | Kniazeva 99; Maw 00; Michaelides 03; Yang 08a; Zhang 07 |
|
ADGRA3, GPR125, PGR21, TEM5L, GPR125; 612303 |
4p15.2 | recessive retinitis pigmentosa; protein: G protein-coupled receptor 125 [Gene] | homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in an isolated Saudi RP patient and a novel splice-site mutation in a second isolated Saudi RP patient; protein is a G protein-coupled receptor of unknown function | Abu-Safieh 13 |
| DTHD1 | 4p14 | recessive Leber congenital amaurosis with myopathy; protein: death domain containing protein 1 [Gene] | homozygosity mapping, whole-exome sequencing; rare, novel homozygous single-nucleotide substitution affecting start of translation in a multiplex Saudi LCA family with mild-to-moderate muscle dystrophy; protein of unknown function | Abu-Safieh 13 |
|
WDR19, ATD5, CED4, IFT144, NPHP13, PWDMP, SLSN8, SRTD5; 208500, 218330, 256100, 608151, 614376, 614377, 614378, 616307 |
4p14 | recessive renal, skeletal and retinal anomalies; recessive Senior-Loken syndrome; protein: WD repeat domain 19 protein [Gene] | whole-exome sequencing; recessive mutations in WDR19 cause a wide range of diseases with symptoms including retinitis pigmentosa and mild-to-severe kidney abnormalities (nephronophthisis and Senior-Loken syndrome); additional conditions include asphyxiating thoracic dysplasia (Jeune syndrome) and/or cranioectodermal dysplasia (Sensenbrenner syndrome); the WDR19 protein is a member of the intraflagellar transport A complex involved in ciliary function | Bredrup 11; Coussa 13; Halbritter 13 |
|
CNGA1, CNCG, CNCG1, RP49; 123825, 268000, 613756 |
4p12 | recessive retinitis pigmentosa; protein: rod cGMP-gated channel alpha subunit [Gene] | candidate gene; nonsense, missense and deletion mutations in four RP families | Dhallan 92; Dryja 95; Griffin 93 |
|
COQ2, COQ10D1, MSA1; 607426, 609825, 146500 |
4q21.23 | recessive RP; recessive retinopathy with renal disease; protein: coenzyme Q2 polyprenyltransferase [Gene] | candidate gene sequencing; distinct biallelic mutations in the COQ2 gene were found in three families with RP alone, or RP and renal disease; the families were part of a cohort of patients with inherited retinal diseases screened for genes involved in coenzyme Q10 biosynthesis; in an independent study, biallelic COQ2 mutations were found in a family with RP, optic atrophy and renal disease; other dominant and recessive mutations in this gene cause susceptibility to multisystem atrophy (MSA1) and coenzyme Q10 deficiency (COQ10D1); coenzyme Q10 is a critical, multi-protein component of mitochondrial respiration, and mutations in CoQ10 genes cause a number of complex systemic diseases | Jurkute 22; Stallworth 23 |
|
WFS2; 604928 |
4q22-q24 | recessive Wolfram syndrome; dominant [Gene] | homozygosity mapping, linkage mapping; symptoms include diabetes, optic atrophy and deafness; three Jordanian families; distinct from WFS1 | El-Shanti 00 |
|
MTTP, ABL, MTP; 200100, 157147 |
4q23 | recessive abetalipoproteinemia; protein: microsomal triglyceride transfer protein [Gene] | candidate gene; multiple lipid abnormalities including pigmentary retinal degeneration | Narcisi 95; Sharp 93; Shoulders 93 |
|
LRIT3, FIGLER4; 615004 |
4q25 | recessive congenital stationary night blindness, complete; protein: leucine-rich repeat immunoglobulin-like transmembrane domains protein 3 [Gene] | whole-exome sequencing; distinct compound heterozygous mutations in two isolated cases; function of the gene product is unknown but the protein localizes to the outer plexiform layer of the retina in a pattern similar to other CSNB proteins | Zeitz 13 |
|
BBS7, BBS2L1; 209900, 607590 |
4q27 | recessive Bardet Biedl syndrome; protein: BBS7 protein [Gene] | candidate gene; homozygous mutations in several families; protein of unknown function with sequence similarity to BBS2 | Badano 03 |
|
BBS12, FLJ35630; 209900, 610683 |
4q27 | recessive Bardet-Biedl syndrome; protein: BBS12 protein [Gene] | homozygosity mapping; mapping in Gypsy families and mutations in other families; the BBS12 gene is 1 mb from the BBS7 gene which was excluded by sequencing; protein has sequence similarity to other BBS genes and is a member of the type II chaperonin superfamily with possible ciliary function | Stoetzel 07 |
|
MFSD8, CLN7, CCMD; 610951, 611124, 616170 |
4q28.2 | recessive macular dystrophy; protein: major facilitator superfamily domain containing 8 protein [Gene] | linkage mapping, whole-exome sequencing; compound heterozygous mutations observed in two Danish families with macular degeneration and central cone loss but no neurologic findings; loss-of-function mutations in MFSD8 cause recessive, early-onset neuronal ceroid lipofuscinosis with severe multisystem findings; the macular degeneration families have a mild MFSD8 missense mutation and likely loss-of-function mutations; the MFSD8 gene product is a transmembrane lysosomal protein involved in lysosomal transport | Roosing 15 |
|
PLK4, MCCRP2; 605031, 616171 |
4q28.2 | recessive microcephaly, growth failure and retinopathy; protein: polo-like kinase 4 [Gene] | linkage mapping, whole-exome sequencing; homozygous PLK4 mutations cause complex developmental disorders including microcephalic dwarfism, congenital anomalies and retinal degeneration in Pakistani and African families; the PLK4 protein is a key regulator of centriolar biogenesis and duplication, and phosphorylates TUBGCP6, mutations in which cause a similar phenotype | Martin 14 |
|
RP29; 268000, 612165 |
4q32-q34 | recessive retinitis pigmentosa [Gene] | linkage mapping; consanguineous Pakistani family | Hameed 01 |
|
LRAT, LCA14; 204000, 604863, 613341 |
4q32.1 | recessive retinitis pigmentosa, severe early-onset; recessive Leber congenital amaurosis; protein: lecithin retinol acyltransferase [Gene] | candidate gene; gene is expressed in RPE; protein catalyzes first step in visual cycle transforming vitamin A into 11-cis-retinol; same pathway as RPE65 | Ruiz 99; Ruiz 01; Thompson 01; Xiao 11 |
|
TLR3; 603029 |
4q35.1 | age-related macular degeneration, complex etiology; protein: toll-like receptor 3 [Gene] | candidate gene, association study; based on the possible role of TLR4 in AMD, association was tested to a TLR3 Leu412Phe polymorphism (rs3775291) in AMD patients with geographic atrophy; the Phe allele was protective in the original and replicate samples; subsequent studies failed to confirm this finding; toll-like receptors recognize microorganisms and then initiate an immune response | Allikmets 09; Edwards 09; Yang 08b |
|
CYP4V2, BCD; 210370, 608614 |
4q35.2 | recessive Bietti crystalline corneoretinal dystrophy; recessive retinitis pigmentosa; protein: cytochrome P450 4V2 [Gene] | linkage mapping, candidate gene; symptoms include RP and glistening crystals in the retina, cornea and lymphocytes; more common in Asians; gene is a member of the cytochrome P450 superfamily, homologous to mouse CYP4V3; protein may play a role in fatty acid and steroid metabolism; one mutation, c.802-8_810del17insGC, accounts for 65% of alleles in Chinese patients; compound heterozygous mutations in CYP4V2 reported in a Chinese family with RP but no other findings of crystalline corneoretinal dystrophy | Jiao 00; Li 04; Xiao 11; Wang 12 |
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Chromosome 5 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
MCDR3; 608850 |
5p15.33-p13.1 | dominant macular dystrophy [Gene] | linkage mapping; overlapping map locations in a British and a Danish family; clinically similar to North Carolina macular dystrophy, MCDR1; a 900 kb duplication including the IRX gene was identified in one MCDR3 family, suggesting dysregulation of IRX is the cause of disease | Michaelides 03a; Rosenberg 10; Small 15 |
|
CWC27, RPSKA; 250410, 617170 |
5q12.3 | recessive retinitis pigmentosa, non-syndromic; recessive retinitis pigmentosa and skeletal anomalies; protein: spliceosome-associated cyclophilin [Gene] | sequencing; several different homozygous nonsense mutations in seven families with symptoms ranging from non-syndromic RP to retinal degeneration with skeletal anomalies | Xu 17 |
|
POC5, C5orf37; 617880 |
5q13.3 | recessive syndromic disease with retinitis pigmentosa; protein: homolog of Chlamydomonas proteome of centriole 5 protein [Gene] | whole-exome sequencing; a homozygous nonsense mutation was found in a Moroccan/Yemenite Jewish girl with microcephaly, short stature, glomerulonephritis and RP; the POC5 gene is ubiquitously expressed and codes for a highly-conserved protein which localizes to centrioles and is required for normal retinal development | Weisz Hubshman 18 |
|
VCAN, CSPG2, ERVR, WGN1; 118661, 143200 |
5q14.3 | dominant Wagner disease and erosive vitreoretinopathy; protein: chondroitin sulfate proteoglycan 2 (versican) [Gene] | linkage mapping, candidate gene; intronic mutations in several families including the original Wagner family; disease may be a consequence of an imbalance in the ratio of normal splice variants; vitreoretinopathy alone (Brown 95) or with ocular abnormalities (Black 99a) are allelic; versican is a component of extracellular matrix in the vitreous and binds to hyaluronan and link protein to form aggregates which maintain structural integrity | Black 99a; Brown 95; Kloeckener-Gruissem 06; Miyamoto 05; Mukhopadhyay 06 |
|
ADGRV1, FEB4, GPR98, MASS1, USH2C, VLGR1; 602851, 604352, 605472 |
5q14.3 | recessive Usher syndrome, type 2; dominant/recessive febrile convulsions; protein: monogenic audiogenic seizure susceptibility 1 homolog [Gene] | linkage mapping, candidate gene; five unrelated families with mild RP and possible dental abnormalities but without seizures; protein is a very large cell-surface calcium-binding G protein-coupled receptor; same gene as in recessive Frings mouse with seizures from sudden noise, and humans with febrile seizures; originally believed limited to females, but in males too; USH2B family later assigned to ADGRV1 | Ebermann 09; Hilgert 09; McMillan 02; Nakayama 02; Pieke-Dahl 00; Weston 04 |
|
NR2F1, EAR3; 132890, 615722 |
5q15 | dominant optic atrophy with intellectual disability and developmental delay; protein: nuclear receptor subfamily 2 group F member 1 [Gene] | deletion mapping, whole-exome sequencing; deletion mapping in patients with optic nerve atrophy, intellectual disability and developmental delay implicated NR2F1 and/or contiguous genes; de novo missense mutations and additional deletions establish NR2F1 as the case of this disorder; also known as "Bosch-Boonstra optic atrophy" or cerebral visual impairment; the NR2F1 protein is a widely-distributed nuclear receptor which modulates transcription in developing optic nerve and neural tissues | Al-Kateb 13; Bosch 14 |
|
SLC25A46, CMT6B, HMSN6B; 610826, 616505 |
5q22.1 | recessive syndromic optic atrophy; protein: solute carrier family 25 membrane protein 46 [Gene] | whole-exome sequencing; recessive SLC25A46 mutations found in multiple families with early-onset optic atrophy and variable neurologic findings including cerebellar ataxia, motor and sensory neuropathy, and pontocerebellar hypoplasia; symptoms are consistent with Charcot-Marie-Tooth disease and Leigh syndrome; the SLC25A46 protein is an integral component of the mitochondrial outer membrane and participates in mitochondrial function and mitochondrial fusion | Abrams 15; Janer 16 |
|
CTNNA1, MDPT2; 608970, 116805 |
5q31.2 | dominant macular dystrophy, butterfly-shaped; protein: catenin alpha 1 [Gene] | linkage mapping, whole-exome sequencing; Dutch family; other butterfly dystrophy loci excluded; 52 Mb critical region; original disease symbol "BSMD" | den Hollander 04; Saksens 16 |
|
HARS, HRS, USH3B; 614504, 142810 |
5q31.3 | recessive Usher syndrome; protein: histidyl-tRNA synthetase [Gene] | homozygosity mapping, whole-exome sequencing; homozygous Tyr454Ser mutations in a Mennonite (Plain) family in Pennsylvania and in an unrelated Old Order Amish family in Canada; the Tyr454Ser variant has an allele frequency of 1.5% in Old Order Amish; disease symptoms are consistent with Usher syndrome III but also include motor development delay, truncal ataxia and gait abnormalities; some affected children have infection-induced hallucinations (Charles Bonnet syndrome) and rare sudden death; the HARS protein is an enzyme which catalyzes the synthesis of histidyl-transfer RNA (his-tRNA); his-tRNA, in turn, is necessary for incorporation of histidine into proteins | Puffenberger 12 |
|
PDE6A, RP43; 180071, 268000, 613810 |
5q33.1 | recessive retinitis pigmentosa; protein: cGMP phosphodiesterase alpha subunit [Gene] | candidate gene; homozygote and compound heterozygote mutations; causes 3 to 4% of recessive RP in North America; same as PRA in Cardigan Welsh corgi dog | Dryja 99; Huang 95; Peterson-Jones 99; Pittler 90 |
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GRM6, CSNB1B; 257270, 310500, 604096 |
5q35.3 | recessive congenital stationary night blindness; protein: metabotropic glutamate receptor 6 [Gene] | candidate gene; null mutations in patients with CSNB and defective cone ON ERG responses; distinctive, abnormal rod ERG response to 15 Hz flicker; GRM6 expression is restricted to cone ON bipolar cells and protein is a receptor for neurotransmitter glutamate released from rods and cones; mouse knockout shows absent ON response | Dryja 05; Masu 95; Zeitz 05 |
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Chromosome 6 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
MAK, RP62; 154235, 268000, 614181 |
6p24.2 | recessive retinits pigmentosa; protein: male germ-cell associated kinase [Gene] | whole-exome sequencing; exome sequencing identified a homozygous Alu insertion in 21 independently-ascertained probands with recessive RP, all of Jewish ancestry; exome sequencing and cis-regulatory mapping identified nonsense and missense mutations in Turkish and Dutch RP families; MAK is expressed in multiple tissues including spermatogonia and retina; the protein is a kinase involved in regulation of retinal cilium and spermatogenesis | Omori 10; Özgül 11; Stone 11; Tucker 11 |
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C2; 217000 |
6p21.32 | age-related macular degeneration, complex etiology; protein: complement component 2 [Gene] | association study; C2 and CFB are contiguous genes within 500 bp of each other with multiple variants in high linkage disequilibrium; certain C2-CFB haplotypes significantly increase the risk of AMD and others are protective; both proteins have roles in innate immunity and inflammation; deficiency of C2 is associated with autoimmune disease; AMD is also associated with complement genes C3 and CHF | Gold 06 |
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CFB, BF, BFD; 138470 |
6p21.32 | age-related macular degeneration, complex etiology; protein: complement factor B, properdin [Gene] | association study; see C2 for details; properdin is a component of the alternate pathway for complement activation | Gold 06 |
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TULP1, LCA15, RP14; 204000, 268000, 600132, 602280, 613843 |
6p21.31 | recessive retinitis pigmentosa; recessive Leber congenital amaurosis; protein: tubby-like protein 1 [Gene] | linkage mapping, candidate gene; two Dominican families and others; protein localizes to developing and adult rods and cones; possibly involved in transport of rhodopsin from inner to outer segment; a similar gene in tub mouse causes obesity, deafness and retinal degeneration; the TULP1gene shares homology with the TUB gene associated with recessive retinal dystrophy and obesity | Banerjee 98; Banerjee 98a; Gu 98; Hagstrom 98; Hagstrom 01; Hanein 04; Knowles 94; Milam 00 |
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GUCA1A, COD3, CORD14, GCAP1; 120970, 602093, 600364 |
6p21.1 | dominant cone dystrophy; dominant cone-rod dystrophy; protein: guanylate cyclase activating protein 1A [Gene] | linkage mapping, candidate gene; British family with constitutively active mutant; variable phenotype within families | Downes 01; Payne 97; Payne 98; Sokal 98 |
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GUCA1B, GCAP2, RP48; 268000, 602275, 613827 |
6p21.1 | dominant retinitis pigmentosa; dominant macular dystrophy; protein: guanylate cyclase activating protein 1B [Gene] | candidate gene; Gly157Arg mutation in Japanese families with variable phenotype; no pathologic changes found in 400 British patients with dominant retinopathies | Payne 99a; Sato 04 |
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PRPH2, CACD2, LCA18, MDPT1, RDS, RP7, VMD3; 136880, 169150, 179605, 204000, 268000, 608133, 608161, 613105 |
6p21.1 | dominant retinitis pigmentosa; dominant macular dystrophy; digenic RP with ROM1; dominant adult vitelliform macular dystrophy; dominant cone-rod dystrophy; dominant central areolar choroidal dystrophy; recessive LCA; protein: peripherin 2 [Gene] | linkage mapping, candidate gene; dominant mutations but, in addition, heterozygote PRPH2 and ROM1 mutations cause digenic disease, and homozygous recessive missense mutations cause LCA or early onset RP; carrier parents of recessive LCA children with PRPH2 mutations are asymptomatic; accounts for 5% of dominant RP; same gene affected in the rd2 mouse; photoreceptor rescue in a mouse model; mutations in PRPH2 are the most clinically heterogeneous among genes causing inherited, non-syndromic retinal degeneration | Ali 00; Arikawa 92; Boon 09; Chang 02; Connell 90; Connell 91; Dryja 97; Farrar 91; Felbor 97a; Jordan 92a; Kajiwara 91; Kajiwara 94; Khan 15; Nakazawa 94a; Travis 91; Travis 91a; Wang 13 |
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BCAMD, MCDCA; 153870 |
6p12.3-q16 | dominant macular dystrophy, benign concentric annular | linkage mapping; Dutch family; suggestive evidence for a mutation in IMPG1 | van Lith-Verhoeven 04 |
|
EYS, RP25, SPAM; 268000, 602772 |
6q12 | recessive retinitis pigmentosa; protein: eyes shut/spacemaker (Drosophila) homolog [Gene] | homozygosity mapping, linkage mapping, candidate gene; Spanish and Pakistani families; accounts for 10 to 20% of recessive RP in Spain and 12% in France, and is a common cause of RP in China; the EYS gene, one of the largest human genes (2.0 mb), codes for a 3,165 AA extracellular matrix protein; EYS is a composite of EGFL11 and Drosophila eys proteins and contains at least 21 EGF and 5 LamG domains; mutations in Drosophila eys cause structural abnormalities in rhabdomeres; gene missing or non-functional in some mammals, including mouse | Abd El-Aziz 06; Abd El-Aziz 08; Abd El-Aziz 08a; Audo 10; Barragán 08; Collin 08; Khaliq 99; Ruiz 98 |
|
COL9A1; 120210 |
6q13 | recessive Stickler syndrome; dominant multiple epiphyseal dysplasia (MED); protein: collagen, type IX, alpha-1 [Gene] | candidate gene; Stickler syndrome (which is usually dominant) involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; recessive COL9A1 mutations in one consanguineous family; see also COL2A1 and COL11A1 | Van Camp 06 |
|
RIMS1, CORD7, RIM1; 120970, 603649, 606629 |
6q13 | dominant cone-rod dystrophy; protein: regulating synaptic membrane exocytosis protein 1or rab3A-interacting molecule [Gene] | linkage mapping, candidate gene; expressed in brain and photoreceptors; protein localizes to ribbon synapses and interacts with RAB3A, a protein that regulates synaptic vesicle exocytosis; claim of enhanced cognition in affected individuals | Johnson 03; Kelsell 98; Kniazeva 99a; Sisodiya 07; Wang 97; Wang 00 |
|
IMPG1, IPM150, RP91, SPARC, VDM4; 153870, 602870, 616151 |
6q14.1 | dominant macular dystrophy, vitelliform; recessive macular dystrophy, vitelliform; dominant retinitis pigmentosa; protein: interphotoreceptor matrix proteoglycan 1 [Gene] | linkage mapping, candidate gene, whole-exome sequencing; an identical, dominant missense mutation was found in three European families; other mutations found in dominant families, and homozygous and compound heterozygous mutations found in recessive families; IMPG1 mutations also account for dominant benign concentric annular macular dystrophy (BCAMD), and dominant retinitis pigmentosa; the IMPG1 protein is a component of the photoreceptor extracellular matrix; mutations in other extracellular matrix proteins also cause vitelliform macular dystrophy, suggesting a common disease mechanism | Brandl 17; Gehrig 98; Manes 13; Meunier 14; Olivier 20; van Lith-Verhoeven 04; Zhang 16a |
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LCA5; 204000, 604537, 611408 |
6q14.1 | recessive Leber congenital amaurosis; protein: lebercilin [Gene] | homozygosity mapping, linkage mapping; Pakistani, American Old Order River Brethren, and European families with homozygous mutations in lebercilin, including the original LCA5 family; the LCA5 gene is widely expressed and abundant in retina; lebercilin localizes to photoreceptor connecting cilia, and other cilia and microtubules, and interacts with numerous ciliary proteins including OFD1; although LCA5 mutations might, theoretically, cause complex ciliopathies, null mutations affect the retina only | den Hollander 07; Dharmaraj 00 |
|
ELOVL4, SCA34, ISQMR, STGD3; 133190, 600110, 605512, 614457 |
6q14.1 | dominant macular dystrophy, Stargardt-like; recessive spinocerebellar ataxia; recessive ichthyosis, quadriplegia and retardation; protein: elongation of very long fatty acids protein [Gene] | linkage mapping, candidate gene; large North American family with 5 bp deletion; protein is a photoreceptor-specific component of the fatty acid elongation system, consistent with suggested modifying role of ABCA4; mapping overlaps with CORD7; MCRD1 excluded; includes STGD2; recessive mutations cause spinocerebellar ataxia (SCA34) and/or ichthyosis and profound psychomotor retardation | Aldahmesh 11; Cadieux-Dion 14; Edwards 01; Griesinger 00; Kniazeva 99a; Kniazeva 00; Lagali 00; Stefko 00; Stone 94; Zhang 99; Zhang 01 |
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PRDM13, MCDR1, NCMD, PBCRA1; 136550, 600790, 616741 |
6q16.2 | dominant macular dystrophy, North Carolina type; dominant progressive bifocal chorioretinal atrophy; protein: PR (positive regulatory) domain-containing 13 protein [Gene] | linkage mapping; whole genome sequencing; candidate gene; North Carolina, German, Belizean and British families; MCDR1 is clinically distinct from PBCRA (same locus) but similar to MCDR3 (different locus); linkage mapping reduced interval to less than 1.8 mb; four distinct PRDM13 variants, three affecting gene regulation, found in unrelated MCDR1 families; the PRDM13 protein is a zinc-finger transcription factor abundant in retina | Gehrig 98; Kelsell 95; Rabb 98; Sauer 97a; Small 92; Small 97; Small 99; Small 15; Yang 08 |
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RTN4IP1, OPA10; 610502, 616732 |
6q21 | recessive optic atrophy, non-syndromic and syndromic; protein: reticulon 4 interacting protein 1 [Gene] | homozygosity mapping; homozygous missense mutations identified in a consanguineous Moroccan family and two Roma families; compound heterozygous mutations observed in an additional family; symptoms include early-onset optic neuropathy with or without further neurologic findings; the RTN4IP1 protein is a mitochondrial ubiquinol oxydo-reductase involved in retinal ganglion cell function and neural-retinal development | Angebault 15 |
|
RP63; 268000, 614494 |
6q23 | dominant retinits pigmentosa [Gene] | linkage mapping; linkage in an Indian family with a maximum two-point LOD score of 3.8 | Kannabiran 12 |
|
AHI1, JBTS3; 608629, 608894 |
6q23.3 | recessive Joubert syndrome; protein: Abelson helper integration site 1 [Gene] | homozygosity and linkage mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis | Dixon-Salazar 04; Ferland 04; Lagier-Tourenne 04; Parisi 06 |
|
PEX7, PTS2R, RCDP1; 215100, 266500, 601757 |
6q23.3 | recessive Refsum disease, adult form; protein: peroxisome biogenesis factor 7 [Gene] | linkage mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PHYH and PXMP3 | Braverman 97; Motley 97; Purdue 97; van den Brink 03 |
|
RCD1; 180020 |
6q25-q26 | dominant retinal-cone dystrophy 1 [Gene] | deletion mapping; no specific gene identified by 2023 | OMIM 17 |
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Chromosome 7 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
MDDC, CYMD; 153880 |
7p21-p15 | dominant macular dystrophy, cystoid [Gene] | linkage mapping; distinct from RP9 | Inglehearn 94a; Kremer 94 |
|
AHR, RP85; 600253, 618345 |
7p21.1 | recessive retinitis pigmentosa; protein: aryl hydrocarbon receptor [Gene] | whole-exome sequencing; a homozygous AHR splicing variant was identified in three consanguineous members of an Indian family with recessive RP, with comparable findings in a conditional knockout mouse; AHR is widely expressed and codes for a highly-conserved protein, an aryl hydrocarbon receptor, which functions as a transcription factor involved in response to toxins and ligands including halogenated aromatic hydrocarbons | Zhou 18 |
|
KLHL7, RP42; 268000, 611119, 612943 |
7p15.3 | dominant retinitis pigmentosa; protein: kelch-like 7 protein (Drosophila) [Gene] | linkage mapping, candidate gene; six independent families; accounts for 1 to 2% of autosomal dominant RP cases; the locus is outside of the RP9 linkage region; KLHL7 is a member of the BTB-Kelch superfamily (containing a series of Drosophila protein motifs) and plays a role in the ubiquitin-proteasome pathway leading to protein degradation | Friedman 09 |
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RP9, PAP1, PIM1K; 180104, 268000, 607331 |
7p14.3 | dominant retinitis pigmentosa; protein: RP9 protein or PIM1-kinase associated protein 1 [Gene] | linkage mapping, candidate gene; mutations in PAP1 may cause the RP9 form of RP but there is doubt - the original His137Leu "mutation" may be a paralogous variant (concurrent sequence from a gene and a pseudogene) and no additional mutations have been reported to segregate with disease; PAP1 is a widely-expressed gene; protein has a role in pre-mRNA splicing and interacts with a U2-complex splice factor | Inglehearn 93; Inglehearn 94b; Inglehearn 98; Keen 95; Keen 02; Kim 95; Maita 04; Sullivan 06 |
|
BBS9, PTHB1; 209900, 607968 |
7p14.3 | recessive Bardet Biedl syndrome; protein: parathyroid hormone-responsive B1 protein [Gene] | homozygosity mapping, candidate gene; several small, consanguineous families; identified by a combination of mapping, comparative genomic analysis and gene expression studies; expression is down regulated by PTH but function of protein is unknown | Nishimura 05 |
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PEX1, IRD; 202370, 214100, 266510, 602136 |
7q21.2 | recessive Refsum disease, infantile form; protein: peroxisome biogenesis factor 1 [Gene] | candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX7, PHYH and PXMP3 | Portsteffen 97; Reuber 97 |
|
TSPAN12, EVR5, NET2; 133780, 613310, 613138 |
7q31.31 | dominant familial exudative vitreoretinopathy; protein: tetraspanin 12 [Gene] | linkage mapping, whole-exome sequencing, candidate gene; linkage mapping in large Dutch families, also homozygous knockout mouse model; TSPAN12 is a member of the tetraspanin transmembrane 4 superfamily; common cause of FEVR; TSPAN12, FZD4, LRP5 and NDP proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis | Junge 09; Nikopoulos 10; Poulter 10 |
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IMPDH1, LCA11, RP10; 146690, 204000, 268000, 180105, 613837 |
7q32.1 | dominant retinitis pigmentosa; dominant Leber congenital amaurosis; protein: inosine monophosphate dehydrogenase 1 [Gene] | linkage mapping, candidate gene; Spanish, Scottish and American families; IMPDH1 is one of two widely-expressed isoforms in humans; IMPDH's are highly-conserved enzymes, found in bacteria and eukaryotes, which catalyzes the rate-limiting step in de novo guanine synthesis; a common IMPDH1 mutation, Asp226Asn, is at a site conserved in all species and accounts for at least 2% of all dominant RP; mutations affect polynucleotide binding (e.g., to rhodopsin mRNA) by the CBS domains but not enzyme activity | Bowne 02; Bowne 06; Daiger 97; Jordan 93; Kennan 02; McGuire 95; McGuire 96; Millán 95; Mohamed 96; Mortimer 05; Mortimer 08 |
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OPN1SW, BCP, CBT; 190900 |
7q32.1 | dominant tritanopia; protein: blue cone opsin [Gene] | candidate gene; several mutations; progressive retinopathy not observed | Fitzgibbon 94; Nathans 86; Nathans 92; Nathans 93; Weitz 92; Weitz 92a |
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KIAA1549, RP86; 613344, 618613 |
7q34 | recessive retinitis pigmentosa; protein: KIAA1549 protein [Gene] | homozygosity mapping, whole-exome sequencing; a rare, homozygous frame-shift mutation was found in a multiplex Saudi RP family, and additional novel homozygous mutations in Iranian and Netherlander families; the gene product is a protein of unknown function; a KIAA1549/BRAF gene fusion is associated with pilocystic astrocytoma | Abu-Safieh 13; de Bruijn 18 |
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SLC37A3, SPX3; 619137 |
7q34 | recessive retinitis pigmentosa with macular degeneration; protein: solute carrier family 37 member 3 [Gene] | candidate gene; a screen of 433 solute carrier genes in a large cohort of Israeli patients with inherited retinal diseases revealed a homozygous variant in SLC37A3 in one consanguineous family with RP and macular degeneration; mutations in several solute carrier genes cause RP and related conditions including SLC66A1 and SLC39A12 implicated in this study | Millo 22 |
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Chromosome 8 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
RP1L1, RP88; 608581, 618826 |
8p23.1 | dominant occult macular dystrophy; recessive retinitis pigmentosa; protein: retinitis pigmentosa 1-like protein 1 [Gene] | linkage mapping, candidate gene; mapping and sequencing candidate genes in Japanese families with occult macular dystrophy (OMD) revealed a missense mutation in three families and a second mutation in a fourth family; OMD involves central cone dysfunction and loss of vision with a normal-appearing retina; other RP1L1 variants are associated with a wide range of symptoms including retinitis pigmentosa alone; RP1L1 and RP1 proteins are 35% identical and interact with photoreceptor connecting cilia; the RP1L1 gene is highly variable complicating mutation screening | Akahori 10; Bowne 03; Conte 02; Davidson 13a; Yamashita 09 |
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ADAM9, CORD9, MCMP, MDC9; 120970, 602713, 612775 |
8p11.23 | recessive cone-rod dystrophy; protein: ADAM metallopeptidase domain 9 (meltrin gamma) protein [Gene] | linkage mapping, candidate gene; four consanguineous families including the original Brazilian CORD9 family; early onset in humans with loss of peripheral and central vision; widely expressed gene; homozygous knockout mouse has mild retinopathy and no other overt symptoms; ADAM9 protein is involved in cell-matrix interactions and acts as an adhesion molecule binding integrins | Danciger 01; Parry 09a; Weskamp 02 |
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HGSNAT, MPS3C, RP73, TMEM76; 252930, 268000, 610453, 616544 |
8p11.21-p11.1 | recessive retinitis pigmentosa, non-syndromic; recessive mucopolysaccharidosis; protein: heparan-alpha-glucosaminide N-acetyltransferase [Gene] | whole-exome sequencing; recessive mutations in HGSNAT were first identified in patients with type IIIC mucopolysaccharidosis, also called Sanfilippo syndrome C, with symptoms of severe central nervous system degeneration and retinal dystrophy; recessive mutations were found subsequently in patients with RP but without neurologic disease or other symptoms; the HGSNAT protein, also called N-acetyltransferase, acetylates heparin and heparan sulfate in lysosomes and is abundant in retina; Sanfilippo syndrome is a classic lysosomal storage disease affecting neurologic tissues | Haer-Wigman 15 |
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RP1, ORP1; 180100, 268000, 603937 |
8q12.1 | dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: RP1 protein [Gene] | linkage mapping, candidate gene; causes 5 to 10% of adRP; large Kentucky family and others; highly variable expression; two common mutations, Arg677X and 2280del4; protein is photoreceptor-specific, with similarity to doublecortin, and localizes to connecting cilia; homozygous insertions and deletions in Pakistani families; mutations in a similar gene, RP1L1, also cause retinal disease; common recessive Ser542X founder mutation in Spanish patients | Avila-Fernandez 12; Blanton 91; Bowne 99; Daiger 97; Guillonneau 99; Jacobson 00; Khaliq 05; Liu 02; Pierce 99; Riazuddin 05; Roderick 97; Sadler 93; Sullivan 99; Xu 96 |
|
TTPA; 600415 |
8q12.3 | recessive retinitis pigmentosa and/or recessive or dominant ataxia; protein: alpha-tocopherol-transfer protein [Gene] | candidate gene; TPA mutations found in patients with vitamin E deficiency | Yokota 96 |
|
CSPP1; 611654, 213300, 249000 |
8q13.1-q13.2 | recessive Jobert syndrome; protein: centrosome and spindle pole associated protein 1 [Gene] | whole-exome sequencing; multiple families identified with Joubert syndrome, Meckel-Gruber syndrome and/or other highly-variable ciliopathy findings caused by recessive mutations in CSPP1; mutations in CSPP1 may account for up to 5% of Joubert syndrome cases; possible symptoms include skeletal dysplasias, asphyxiating thoraic dystrophy, brain abnormalities and retinal dystrophy; the CSPP1 protein, like other Joubert syndrome proteins, interacts with the spindle apparatus in dividing cells, and with primary cilia in liver, kidney and retinal cells | Akizu 14; Shaheen 14; Tuz 14 |
|
OPA6, ROA1; 165500, 258500 |
8q21-q22 | recessive optic atrophy [Gene] | linkage mapping; large, multiplex, consanguineous French family | Barbet 03 |
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PEX2, PAF1, PMP35, PXMP3; 170993, 214100, 266510 |
8q21.13 | recessive Refsum disease, infantile form; protein: peroxisomal membrane protein 2 [Gene] | candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PEX7 and PHYH | Gartner 92; Shimozawa 92 |
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CNGB3, ACHM3, RMCH1; 216900, 248200, 262300, 605080 |
8q21.3 | recessive achromatopsia Pingelapese; recessive progressive cone dystrophy; protein: cone cyclic nucleotide-gated cation channel beta 3 subunit [Gene] | linkage mapping, candidate gene; symptoms include total color blindness, photophobia and nystagmus; European and American families, and 4-10% of Pingelapese on the Eastern Caroline Islands; protein generates cone electrical response; common 1148delC mutation; CNGB3 accounts for up 50% of achromatopsia cases whereas CNGA3 accounts for 20-30% and GNAT2 accounts for a minor fraction; same as cd in Alaskan Malamute and German Pointer dogs; ACHM1 family reassigned to CNGB3 | Kohl 00; Kohl 02; Kohl 05; Michaelides 04a; Milunsky 99; Nishiguchi 05; Pentao 92; Sidjanin 02; Sundin 00; Winick 99 |
|
C8orf37, BBS21, CORD16, RP64; 120970, 268000, 614477, 614500 |
8q22.1 | recessive cone-rod dystrophy; recessive retinitis pigmentosa with early macular involvement; recessive Bardet-Biedl syndrome; protein: chromosome 8 open reading frame 37 [Gene] | homozygosity mapping, whole-exome sequencing; a homozygous mutation in an Israeli CORD family and additional homozygous mutations in other families with early-onset CORD or RP; the first-reported mutation has an allele frequency of greater than 1% in Israelis of Druze origin; a homozygous mutation causing CORD or RP in some families may cause BBS in other families; additional BBS families also reported; the C8otf37 protein, of unknown function, localizes to the base of cilia in retinal photoreceptors and RPE cells | Estrada-Cuzcano 12a; Héon 16; Khan 16; van Huet 13 |
|
GDF6, CDMP2, KFS1, LCA17; 204000, 601147, 613703, 613094, 615360 |
8q22.1 | recessive Leber congenital amaurosis; dominant Klippel-Feil syndrome; dominant microphthalmia; protein: growth differentiation factor 6 [Gene] | candidate gene; missense mutations in GDF6 cause dominant Klippel-Feil syndrome with abnormal cervical vertebrae, other congenital abnormalities and hearing loss, with or without microphthalmia; compound heterozygous missense mutations identified in an LCA patient without additional symptoms, and heterozygous missense mutations found in other LCA patients; GDF6 codes for a widely-expressed growth factor in the TGF-β pathway specifying the dorsal-ventral retinal axis | Asai-Coakwell 13 |
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RIMS2, CRSDS, RIM2; 606630, 618970 |
8q22.3 | recessive cone-rod dystrophy, congenital syndromic nonprogressive; protein: synaptic membrane exocytosis 2 regulating protein [Gene] | whole-genome sequencing; comment pending | Mechaussier 20 |
|
VMD1; 153840 |
not 8q24 | dominant macular dystrophy, atypical vitelliform [Gene] | linkage exclusion; linked to GPT but later excluded | Daiger 97; Ferrell 83; Leach 96; Sohocki 97 |
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Chromosome 9 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
KCNV2, RCD3B; 607604, 610356 |
9p24.2 | recessive cone dystrophy with supernormal rod electroretinogram; protein: potasium channel subfamily V member 2 [Gene] | homozygosity mapping, candidate gene; mutations in several unrelated families; symptoms include progressive visual loss with supernormal ERG response to a bright flash of light - suggesting an abnormal potassium current in photoreceptor inner segments; protein (also called Kv11.1) is expressed in rods and cones and must coassemble with other subunits to form an active voltage-gated potassium channel | Ottschytsch 02; Wu 06 |
|
TOPORS, LUN, P53BP3, RP31; 268000, 609507, 609923 |
9p21.1 | dominant retinitis pigmentosa; protein: topoisomerase I binding arginine/serine rich protein [Gene] | linkage mapping, candidate gene; RP31 mapped in a French Canadian family, TOPORS mutations also found in European families; early symptoms include a perivascular cuff of RPE atrophy surrounding the superior and inferior retinal arcades, later progressing to diffuse pigmentary retinopathy; TOPORS protein is widely expressed and localizes to the basal body of connecting cilia in photoreceptors; morpholino silencing in zebrafish affects retinal development | Chakarova 07; Chakarova 11; Papaioannou 05 |
|
MIR204; 610942 |
9q21.12 | dominant retinal dystrophy with iris coloboma; protein: micro RNA 204 [Gene] | linkage mapping, whole-exome sequencing; a heterozygous nucleotide substitution found in a five-generation British family with dominant retinal degeneration and bilateral iris coloboma (holes); miR-204 is a small micro RNA which plays a role in vertebrate eye development and photoreceptor maintenance; the mutation affects miRNA-204 targeting, and knockouts in a medaka fish model replicate findings in humans | Conte 15 |
|
CEP78, C9orf81, CRDHL; 617110, 617236 |
9q21.2 | recessive cone-rod dystrophy with hearing loss; recessive Usher syndrome, atypical; protein: centrosomal protein 78 [Gene] | homozygosity mapping, whole-exome sequencing; homozygous and compound heterozygous CEP78 mutations found in Greek, Swedish and Jewish families with CORD and adolescent or late-onset neurosensory hearing loss; two consanguineous Chinese families with homozygous CEP78 mutations were reported to have atypical Usher syndrome but with symptoms consistent with CORD and mild hearing loss; the CEP78 gene is widely expressed, with three splice variants particularly abundant in retina; the CEP78 protein plays a role in centrosomal function and ciliogenesis | Fu 17; Namburi 16; Nikopoulos 16 |
|
INVS, NPHP2; 243305, 602088 |
9q31.1 | recessive Senior-Loken syndrome; recessive nephronophthisis; protein: inverson [Gene] | homozygosity mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; a deletion of this gene produces reversal of left-right polarity (situs inversus) and kidney disease in the inv mouse | Haider 98; Mochizuki 98; Morgan 98; Otto 03; O'Toole 06 |
|
PRPF4, RP70; 268000, 607795, 615922 |
9q32 | dominant retinitis pigmentosa; protein: pre-mRNA processing factor 4 [Gene] | targeted-capture next-generation sequencing; a heterozygous PRPF4 missense mutation and a regulatory deletion were identified in a dominant RP family and an isolated case, respectively; the PRPF4 protein is a member of the U4/U6-U5 splice complex which includes several other proteins causing dominant RP; a functional null mutation in PRPF4 suggests haploinsufficiency as a disease mechanism | Chen 14; Linder 14 |
|
WHRN, DFNB31, USH2D; 607084, 607928, 611383 |
9q32 | recessive Usher syndrome, type 2; recessive deafness without retinitis pigmentosa; protein: whirlin [Gene] | linkage mapping, candidate gene; recessive mutations in deaf wi (whirler) mouse and in humans with profound prelingual deafness; rare cause of recessive deafness and RP; gene product is a PDZ scaffold protein expressed in hair cells and photoreceptors; mutations causing retinal disease are in the long protein isoform | Ebermann 07; Mburu 03; Mustapha 02 |
|
TRIM32, BBS11, HT2A; 209900, 254110, 602290 |
9q33.1 | recessive Bardet-Biedl syndrome; recessive limb-girdle muscular dystrophy; protein: tripartite motif-containing protein 32 [Gene] | homozygosity mapping, candidate gene; small consanguineous Israeli Bedouin family; protein is an E3 ubiquitin ligase; antisense (morpholino) knockdown of gene in zebrafish produces a phenotype similar to other BBS gene knockdowns; missense mutations in TRIM32 are also associated with limb-girdle muscular dystrophy type 2H (LGMD2H) | Chiang 06; Fridell 95; Frosk 02 |
|
TLR4, ARMD10; 603030, 603075, 611488 |
9q33.1 | age-related macular degeneration, complex etiology; protein: toll-like receptor 4 [Gene] | linkage mapping, association study; linkage mapping indicated an AMD locus at this site and a polymorphic Asp299Gly amino acid substitution in TLR4 showed association with life-time risk of AMD in Caucasians; a subsequent study did not replicate this finding; toll-like receptors recognize microorganisms and then initiate an immune response; TLR4 produces a widely-expressed transmembrane protein which recognizes lipopolysaccharide from Gram-negative bacteria; the Gly allele is protective against atherosclerosis; see also TLR3 | Edwards 08; Zareparsi 05a |
|
COQ4, COQ10D7, SPAX10; 612898, 616276, 620666 |
9q34.11 | recessive retinitis pigmentosa; protein: coenzyme Q4 [Gene] | candidate gene sequencing; distinct biallelic mutations in the COQ4 gene were found in one family with recessive RP; the family was part of a cohort of patients with inherited retinal diseases screened for genes involved in coenzyme Q10 biosynthesis; other recessive mutations in this gene cause spastic ataxia (SPAX10) and coenzyme Q10 deficiency (COQ10D7); coenzyme Q10 is a critical, multi-protein component of mitochondrial respiration, and mutations in CoQ10 genes cause a number of complex systemic diseases | Jurkute 22 |
|
DYNC2I2, SRTD11, WDR34; 613363, 615633 |
9q34.11 | recessive rod-cone dystrophy, non-syndromic; recessive short-rib thoracic dysplasia, polydactyly and retinal dystrophy; protein: dynein 2 intermediate chain 2 protein [Gene] | homozygosity mapping, sequencing; also called WD repeat-containing protein 34 (WDR34); homozygous missense mutations in DYNC2I2 in a consanguineous patient with non-syndromic rod-cone dystrophy, a gene also associated with complex skeletal anomalies | Solaguren-Beascoa 21 |
|
RP8, RP21; 500004 |
not 9q34-qter | dominant retinitis pigmentosa with sensorineural deafness [Gene] | linkage mapping; later mapped to MT-TS2 in mitochondrion; 'RP21' withdrawn | Kenna 97; Mansergh 99 |
|
EXOSC2; 602238 |
9q34.12 | recessive retinitis pigmentosa with hearing loss and additional disabilities; protein: exosome component 2 [Gene] | whole-exome sequencing; homozygous and compound heterozygous mutations in EXOSC2 observed in two German families; affected individuals have early-onset RP, childhood myopia, congenital anomalies, hearing loss, short stature, premature aging and mild intellectual impairment; the EXOSC2 protein is a subunit of the exosome ribonuclease complex involved in mRNA processing | Di Donato 16 |
|
INPP5E, CORS1, JBTS1; 213300, 610156 |
9q34.3 | recessive Joubert syndrome; recessive MORM syndrome; protein: inositol polyphosphate-5-phosphatase E [Gene] | linkage mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; MORM is similar to Bardet-Biedl syndrome; the INPP5E gene is widely expressed; the protein stabilizes primary cilia through regulation of phosphatidylinositol in conjunction with phosphotidylinositol kinases | Bielas 09; Jacoby 09; Saar 99 |
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Chromosome 10 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
PHYH, PAHX, RDPA; 266500, 600964, 602026 |
10p13 | recessive Refsum disease, adult form; protein: phytanoyl-CoA hydroxylase [Gene] | homozygosity mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PEX7 and PXMP3 | Jansen 97; Jansen 97a; Mihalik 97; Nadal 95 |
|
SLC39A12, ZIP12; 268000, 608734 |
10p12.33 | recessive retinitis pigmentosa; protein: solute carrier family 39 (zinc transporter) member 12 [Gene] | candidate gene; a screen of 433 solute carrier genes in a large cohort of Israeli patients with inherited retinal diseases revealed homozygous variants in SLC39A2 in four consanguineous family with RP; mutations in several solute carrier genes cause RP and related conditions including SLC66A1 and SLC37A3 implicated in this study | Millo 22 |
|
PDSS1, COQ10D2; 607429, 614651 |
10p12.1 | recessive retinitis pigmentosa; recessive RP with hearing impairment; protein: decaprenyl diphosphate synthase subunit 1 [Gene] | candidate gene sequencing; distinct biallelic mutations in the PDSS1 gene were found in six families with recessive RP, or RP and hearing impairment; the families were part of a cohort of patients with inherited retinal diseases screened for genes involved in coenzyme Q10 biosynthesis; other recessive mutations in this gene cause coenzyme Q10 deficiency (COQ10D2); coenzyme Q10 is a critical, multi-protein component of mitochondrial respiration, and mutations in CoQ10 genes cause a number of complex systemic diseases | Jurkute 22 |
| ACBD5 | 10p12.1 | recessive cone-rod dystrophy with psychomotor delay; protein: acyl-CoA binding domain containing protein 5 [Gene] | homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in a multiplex Saudi family with CORD and white matter disease; protein binds co-enxyme A with unknown function | Abu-Safieh 13 |
| USH1K | 10p11.21-q21.1 | recessive Usher syndrome, type 1k | linkage mapping; genome-wide linkage mapping in a consanguineous Pakistani family with type 1 Usher syndrome localized the disease locus to chromosome 10 with a two-point lod score of 3.8; the locus overlaps with PCDH15 (USH1F) but sequencing uncovered no mutations; also overlaps with DFNB33 | Jaworek 12 |
|
RBP3, IRBP, RP66; 180290, 268000 |
10q11.22 | recessive retinitis pigmentosa; protein: retinol binding protein 3, interstitial [Gene] | homozygosity mapping, candidate gene; a homozygous mutation in an inbred family, otherwise a rare cause of recessive RP; RBP3 protein binds and transports retinoids in the interphotoreceptor matrix between the RPE and photoreceptors; transgenic knockout mice have rod and cone structural abnormalities, and produce reduced ERG amplitudes with recovery following 9-cis-retinal treatment | den Hollander 09; Liou 98; Parker 09; Valverde 98 |
|
ERCC6, ARMD5; 133540, 214150, 278800, 603075, 609413 |
10q11.23 | age-related macular degeneration, complex etiology; Cockayne syndrome, recessive; protein: excision repair cross-complementing rodent repair deficiency complementation group 6 protein [Gene] | candidate gene, association study; a flanking SNP in ERCC6 increases life-time risk of AMD only slightly, but in interaction with the CFH Tyr402His polymorphism increases risk substantially; homozygous mutations cause xeroderma pigmentosa or complex developmental disorders; protein is involved in DNA nucleotide excision repair | Tuo 06 |
|
RNANC; 221900 |
10q21 | recessive nonsyndromal congenital retinal nonattachment [Gene] | homozygosity mapping; 1% prevalence in isolated Iranian population | Ghiasvand 98; Ghiasvand 00 |
|
PCDH15, DFNB23, USH1F; 276900, 601067, 602083, 605514, 609533 |
10q21.1 | recessive Usher syndrome, type 1f; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with CDH23; protein: protocadherin 15 [Gene] | homozygosity mapping, candidate gene; mapping in an inbred Hutterite family, mutations in Pakistani families; distinct from USH1D; same as mouse waltzer (av) with balance and hearing loss only; protein localizes to stereocilia in inner-ear hair cells and to photoreceptors; digenic Usher syndrome with CDH23 suggested by a heterozygous knockout mouse | Ahmed 01; Ahmed 03; Alagramam 01; Alagramam 01a; Wayne 97; Zheng 04 |
|
HK1, RP79; 142600, 235700, 268000, 605285, 617460 |
10q22.1 | dominant retinitis pigmentosa; recessive nonspherocytic hemolytic anemia; recessive hereditary neuropathy (Russe type); protein: hexokinase 1 [Gene] | linkage mapping, whole-exome sequencing; a missense mutation, Glu847Lys, was identified in a large Louisiana family with dominant RP and in four other unrelated dominant RP families from Louisiana, Canada and Sicily; one family member homozygous for the mutation has severe, early-onset RP; heterozygotes are more mildly affected; the mutation tracks with an uncommon haplotype of 450 kb suggesting an ancient founder event; hexokinase 1 catalyzes phosphorylation of glucose to glucose-6-phosphate; recessive null mutations are associated with hemolytic anemia and neuropathy, symptoms not observed in the RP families | Sullivan 14; Wang 14 |
|
CDH23, DFNB12, USH1D; 276900, 601386, 601067, 605516 |
10q22.1 | recessive Usher syndrome, type 1d; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with PCDH15; protein: cadherin-like gene 23 [Gene] | homozygosity mapping, candidate gene; CDH23 is expressed in retina and cochlea; cadherins are intercellular adhesion proteins; same as v waltzer deafness mouse; consanguineous Cuban, Indian, Pakistani and Turkish families; may cause 56% of Usher syndrome and 5% of recessive nonsyndromic deafness; digenic Usher syndrome with PCDH15 suggested by a heterozygous knockout mouse | Astuto 02; Bolz 01; Bork 01; Di Palma 01; Wayne 96; Zheng 04 |
|
CDHR1, CORD15, PCDH21, RP65; 120970, 268000, 609502, 613660 |
10q23.1 | recessive cone-rod dystrophy; protein: cadherin-related family member 1 (protocadherin 21) [Gene] | homozygosity mapping, candidate gene; distinct homozygous 1 bp deletions in two consanguineous Middle Eastern families; disease-causing variants were not detected in CDHR1 in an independent survey of patients with recessive retinopathies; CDHR1 protein is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion factors, largely photoreceptor specific, involved in disc development; additional consanguineous Faroe Island family | Bolz 05; Henderson 10; Ostergaard 10 |
|
RGR, RP44; 268000, 600342, 613769 |
10q23.1 | recessive retinitis pigmentosa; dominant choroidal sclerosis; dominant retinopathy, diffuse and variable; protein: RPE-retinal G protein-coupled receptor [Gene] | candidate gene; the RGR protein is a rhodopsin homolog found in RPE and Müller cells exclusively but, in contrast to rhodopsin, it binds all-trans retinal which light converts to 11-cis retinal; heterozygous individuals with the RGR Ile280fs*78 founder mutation have variable ocular findings ranging from asymptomatic, to diffuse retinopathy, to chorioretinal atrophy | Ba-Abbad 18; Chen 96; Morimura 99a |
|
KIF11, EG5, HK5P, KNSL1, MCLMR, TRIP5; 148760, 152950 |
10q23.33 | dominant microcephaly, lymphedema and chorioretinopathy; protein: kinesin family member 11 [Gene] | whole-exome sequencing; multiple affected families, some with chorioretinopathy, some without; the KIF11 protein (also called EG5) forms a homotetramer kinesin motor involved in mitotic spindle assembly and function | Ostergaard 12 |
|
RBP4; 180250 |
10q23.33 | recessive RPE degeneration; protein: retinol-binding protein 4 [Gene] | candidate gene; RPE atrophy with night blindness and reduced visual acuity; carrier protein for serum retinol | Seeliger 99 |
|
PDE6C, ACHM5, COD4, PDEA2; 600827, 613093 |
10q23.33 | recessive cone dystrophy, early onset; recessive complete and incomplete achromatopsia; protein: cGMP-specific cone phosphodiesterase 6C alpha prime protein [Gene] | homozygosity mapping, candidate gene; homozygous mutations in four families, two with cone dystrophy and two with achromatopsia (absent cones and/or color vision); several additional heterozygous mutations in other patients; PDE6C protein is a component of cone cGMP phosphodiesterase which plays a central role in cone phototransduction | Thiadens 09 |
|
PAX2, ONCR; 120330, 167409 |
10q24.31 | dominant renal-coloboma syndrome; protein: paired homeotic gene 2 protein [Gene] | candidate gene; optic nerve colobomas with renal abnormalities; similar malformations in Pax2(1Neu) mouse mutation | Favor 96; Sanyanusin 95; Sanyanusin 95a |
|
PDZD7, PDZK7; 612971 |
10q24.31 | recessive non-syndromic deafness; protein: PDZ domain 7 containing protein [Gene] | chromosomal translocation; homozygous chromosomal translocation breakpoint in the PDZK7 gene in an 8 year old child with hearing loss but no retinal disease; included as a likely Usher syndrome gene (not in Summaries); gene interacts with DFNB31 and USH1C proteins; may modify other Usher mutations | Schneider 09 |
|
ARL3, RP83; 604695, 618173 |
10q24.32 | dominant retinitis pigmentosa; protein: ADP ribosylation factor like GTPase 3 [Gene] | whole-exome sequencing; a de novo, damaging missense mutation in ARL3 segregates in two generations of a family with autosomal dominant RP; ADP-ribosylation factors are small GTPase enzymes; the ARL3 protein interacts with the RP2 protein and regulates trafficking of prenylated proteins and ciliogenesis in the rod outer segment | Hanke-Gogokhia 16; Strom 16; Wright 16 |
|
BBIP1, BBIP10, BBS18; 613605 |
10q25.2 | recessive Bardet-Biedl syndrome; protein: BBSome interacting protein 1 [Gene] | whole-exome sequencing; homozygous stop mutation in an isolated BBS case, no other BBS gene mutations detected; protein is a member of the BBSome complex | Scheidecker 13 |
| CORD17 | 10q26 | dominant cone-rod dystrophy | linkage mapping; linkage mapping in a Romani Gypsy family with a maximum LOD score of 3.3 | Kamenarova 12 |
|
ARMS2, ARMD8, LOC387715; 603075, 611313 |
10q26.13 | age-related macular degeneration, complex etiology; protein: hypothetical protein with Entrez ID 387715 [Gene] | association study, candidate gene; a SNP (rs10490924), within LOC387715 in a region on 10q linked to AMD, has the second highest association with AMD of neighboring SNPs, but whether LOC387715 is a functioning gene is disputed; the SNP encodes a possible serine risk allele (Ala69Ser); an LOC387715 transcript is found in many tissues including retina; the predicted gene product is a hypothetical protein of unknown function; the LOC387715-HTRA1 associated SNPs are 6 kb apart | Jakobsdottir 05; Rivera 05 |
|
HTRA1, ARMD7, PRSS11; 602194, 603075, 610149 |
10q26.13 | age-related macular degeneration, complex etiology; protein: HtrA serine peptidase 1 [Gene] | association study, candidate gene; a SNP (rs11200638), which is 512 bp 5' of HTRA1 in a region on10q linked to AMD, has the highest association with AMD of neighboring SNPS; the risk allele may enhance expression; the HTRA protein is a serine protease that degrades insulin-like growth factors; the protein is present in AMD drusen and may regulate degradation of extracellular matrix; the HTRA1-LOC387715 associated SNPs are 6 kb apart | Canfield 07; DeWan 06; Hu 98; Yang 06 |
|
OAT; 258870 |
10q26.13 | recessive gyrate atrophy; protein: ornithine aminotransferase [Gene] | candidate gene; many mutations reported | Valle 00 |
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Chromosome 11 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
ZNF408, EVR6, RP72; 133780, 268000, 616454, 616468, 616469 |
11p11.2 | dominant familial exudative vitreoretinopathy; recessive retinitis pigmentosa with vitreal alterations; protein: zinc finger protein 408 [Gene] | linkage mapping, whole-exome sequencing; missense and frame-shift mutations in ZNF408 were first identified in Dutch families with dominant familial exudative vitreoretinopathy (FEVR); symptoms of FEVR include retinal neovascularization, vitreous exudates and hemorrhage, and retinal detachment; subsequently, homozygous mutations were identified in a Spanish family and an isolated case with RP and vitreal abnormalities but without FEVR; the ZNF408 protein is a zinc-finger transcription factor involved in retinal development and maintenance | Avila-Fernandez 15; Collin 13 |
|
TUB; 601197 |
11p15.4 | recessive retinal dystrophy and obesity; protein: tubby bipartite transcription factor [Gene] | homozygosity mapping, whole-exome sequencing; a homozygous frame-shift mutation identified in a consanguineous child with obesity, night blindness and rod cone dystrophy; recessive mutations in the homologous gene causes similar findings in the "tubby" (tub) mouse and the rd5 mouse with hearing loss; the TUB gene shares homology with the TULP1 gene causing recessive RP and LCA | Chang 02; Dev Borman 13 |
|
TEAD1, AA, TCF13, TEF1; 108985, 189967 |
11p15.3 | dominant atrophia areata; protein: TEA domain family member 1 [Gene] | linkage mapping, candidate gene; also known as Sveinsson peripapillary chorioretinal degeneration, helicoid, with symmetrical lesions radiating from the optic disc; large Icelandic family; protein enhances transcription in the retina and other tissues | Fossdal 95; Fossdal 04 |
|
USH1C, DFNB18; 276900, 276904, 602092, 605242 |
11p15.1 | recessive Usher syndrome, Acadian; recessive deafness without retinitis pigmentosa; protein: harmonin [Gene] | linkage mapping, candidate gene; harmonin is a PDZ-containing protein expressed in inner ear sensory hair cells; contiguous gene syndrome includes deafness, hyperinsulinism and enteropathy; possibly same gene affected in rd5 mouse; nonsyndromic deafness may involve alternately spliced isoforms unique to inner ear; common c.216G>A founder mutation in French Canadians and Acadians as is another in USH2A | Ahmed 02; Ayyagari 95; Bitner-Glindzicz 00; Ebermann 07a; Heckenlively 95; Keats 94; Noun 93; Nouri 94; Ouyang 02; Smith 92; Verpy 00 |
|
EVR3; 133780, 605750 |
11p13-p12 | dominant familial exudative vitreoretinopathy [Gene] | linkage mapping; large Scottish family | Downey 01 |
|
TMEM216, CORS2, JBTS2, MKS2; 603194, 608091, 613277, 213300 |
11q12.2 | recessive Joubert syndrome; recessive Meckel syndrome; protein: transmembrane protein 216 [Gene] | linkage and homozygosity mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; Meckel syndrome can be considered a lethal form of Joubert syndrome; the TMEM216 protein is widely expressed in brain and other tissues and is involved in ciliogenesis | Edvardson 10; Keeler 03; Valente 03; Valente 05; Valente 10 |
|
BEST1, RP50, TU15B, VMD2; 153700, 268000, 607854, 613194 |
11q12.3 | dominant macular dystrophy, Best type; dominant vitreoretinochoroidopathy; recessive bestrophinopathy; recessive retinitis pigmentosa; dominant retinitis pigmentosa; protein: bestrophin 1 [Gene] | linkage mapping, candidate gene; retina-specific expression; protein localizes to the basolateral plasma membrane of the RPE and functions as a transmembrane oligmeric chloride channel; lipofuscin accumulation may be secondary to abnormal ion flux; 1 to 2% of AMD cases may have late-onset BEST mutations; dominant vitreoretinochoroidopathy includes ocular developmental abnormalities whereas biallelic (compound heterozygote) mutations cause a characteristic retinal disorder, "bestrophinopathy"; same as cmr dog model; clinical consequences of bestrophin mutations are highly variable! | Burgess 08; Davidson 09; Forsman 92; Graff 94; Guziewicz 07; Lotery 00a; Marmorstein 00; Marquardt 98; Nichols 94; Petrukhin 98; Stone 92a; Sun 02; Wadeilus 93; Weber 93; Weber 94a; Weber 94c; Yardley 04; Zhaung 93 |
|
ASRGL1; 609212 |
11q12.3 | recessive retinal degeneration; protein: asparaginase-like protein 1 [Gene] | linkage mapping, candidate gene; a homozygous missense mutation identified in multiple affected members of an extended, consanguineous Pakistani family; the gene is widely expressed but only ocular symptoms are seen, including pigmentary retinopathy, retinal vessel attenuation and bulls-eye pattern dystrophy; the ASRGL1 protein is an enzyme that catalyzes hydrolysis of L-asparagine and isoaspartyl-dipeptides; function in the retina is unknown | Biswas 16 |
|
ROM1; 180721 |
11q12.3 | dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2; protein: retinal outer segment membrane protein 1 [Gene] | candidate gene; rare dominant mutations; in addition, heterozygote ROM1 and PRPH2 (RDS) mutations cause digenic disease; USH1H is a digenic form of Usher syndrome | Bascom 92; Bascom 92a; Bascom 93; Bascom 93a; Bascom 95; Dryja 97; Kajiwara 94; Martínez-Mir 97a; Nichols 94; Sakuma 95 |
|
BBS1; 209900, 209901 |
11q13 | recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: BBS1 protein [Gene] | linkage mapping, candidate gene; accounts for approximately 40% of BBS families; a ubiquitously-expressed gene of unknown function but with weak similarity to BBS2; a common Met390Arg mutation can cause classic Bardet-Biedl symptoms in some patients and non-syndromic retinitis pigmentosa alone in others; evidence does not support triallelic inheritance with BBS2, BBS4 or MKKS | Beales 97; Bruford 97; Cornier 95; Estrada-Cuzcano 12; Katsanis 99; Katsanis 01; Leppert 94; Mykytyn 02; Woods 99; Young 99a |
|
CABP4, CSNB2B; 310500, 608965, 610427 |
11q13.1 | recessive congenital stationary night blindness; recessive congenital cone-rod synaptic disease; recessive Leber congenital amaurosis; protein: calcium binding protein 4 [Gene] | animal model, candidate gene, homozygosity mapping; recessive CSNB mutations in two families and LCA in a third consanguineous Bedouin family; expression of CABP4 is limited to retina; protein localizes to photoreceptor synaptic terminals and may modulate voltage-dependent calcium channels; Cabp4-null mice have a phenotype similar to CSNB; mutations in patients reduce transcript levels to 30 to 40% of normal; the CSNB diagnosis is disputed | Aldahmesh 10; Haeseleer 04; Khan 13; Littink 09; Zeitz 06 |
|
LRP5, EVR4, HBM, OPPG; 133780, 259770, 601813, 601884, 603506 |
11q13.2 | dominant familial exudative vitreoretinopathy; dominant high bone mass trait; recessive osteoporosis-pseudoglioma syndrome; recessive familial exudative vitreoretinopathy; protein: low density lipoprotein receptor-related protein 5 [Gene] | linkage mapping, candidate gene; Asian consanguineous family and others; dominant high bone mass subjects have no ocular findings, dominant FEVR patients have low bone mass, recessive osteoporosis patients have severe ocular developmental disorders; LRP5, FZD4, NDP and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis | Jiao 04; Price 96; Toomes 04; Toomes 04a |
|
CAPN5, ADNIV, HTRA3, VRNI; 602537, 193235 |
11q13.5 | dominant neovascular inflammatory vitreoretinopathy; protein: calpain 5 [Gene] | linkage mapping, candidate gene; mutations found in three families; dominant neoovascular inflammatory vitreoretinopathy is an autoimmune disorder with progressive symptoms similar to uveitis, RP and diabetic retinopathy; disease locus (VRNI) was originally mapped in 1992; calpains are calcium-dependent cysteine proteases involved in signal transduction; CAPN5 is expressed in photoreceptors | Mahajan 12; Stone 92 |
|
MYO7A, DFNB2, USH1B; 276900, 276903, 600060 |
11q13.5 | recessive Usher syndrome, type 1b; recessive congenital deafness without retinitis pigmentosa; recessive atypical Usher syndrome (USH3-like); protein: myosin VIIA [Gene] | linkage mapping, candidate gene; MY07A is an unconventional myosin, a component of cilia and microvilli, found in several tissues including inner ear hair cells, photoreceptors and RPE; same gene affected in sh1 shaker-1 mouse (but no RP) and mariner zebrafish; possible digenic deafness with USH3A; MYO7A functions as an actin-based motor protein involved in opsin transport in photoreceptors, RPE phagocytosis, and transport and localization of melanosomes in RPE cells | Adato 97; Adato 99; Bonné-Tamir 94; El-Amraoui 96; Ernest 00; Gibbs 03; Gibbs 04; Gibson 95; Kelley 97; Kimberling 92; Lévy 97; Liu 97; Liu 97a; Liu 97b; Liu 98; Liu 99a; Smith 92; Weil 95; Weil 97; Weston 95; Weston 96; Wolfrum 98 |
|
TMEM126A, OPA7; 165500, 612988, 612989 |
11q14.1 | recessive non-syndromic optic atrophy; protein: transmembrane protein 126A [Gene] | homozygosity mapping, sequencing; Arg55ter mutation in a large inbred Algerian family and other families from the region; transmembrane mitochondrial protein of unknown function, consistent with role of mitochondria in optic neuropathy | Hanein 09; Meyer 10 |
|
FZD4, EVR1, FEVR; 133780, 604579 |
11q14.2 | dominant familial exudative vitreoretinopathy; protein: frizzled-4 Wnt receptor homolog [Gene] | linkage mapping, candidate gene; Criswick-Schepens syndrome; distinct from VRNI; protein is a 7 transmembrane-spanning member of the Wnt (Drosophila wingless) pathway; FZD4, LRP5, NDP and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis | Li 92; Li 92a; Müller 94; Robitaille 02 |
|
DYNC2H1, SRTD3; 603297, 613091 |
11q22.3 | recessive retinal degeneration, non-syndromic; protein: dynein heavy chain isotype 1B protein [Gene] | genome sequencing; five families with different homozygous or compound heterozygous mutations in DYNC2H1 causing non-syndromic retinal degeneration, a gene also associated with complex skeletal anomalies | Vig 20 |
|
CEP164, NPHP15; 256100, 614845, 614848 |
11q23.3 | recessive nephronophthisis with retinal degeneration; protein: 164kDa centrosomal protein [Gene] | whole-exome sequencing; four families with homozygous mutations; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and retinal dystrophy; one of a large class of ciliary and centrosomal ciliopathies affecting kidney, brain and retinal cells; CEP164 protein is involved in DNA damage response | Chaki 12 |
|
C1QTNF5, CTRP5; 605670, 608752 |
11q23.3 | dominant macular dystrophy, late onset; dominant macular dystrophy with lens zonules; protein: C1q and tumor necrosis-related protein 5 collagen [Gene] | linkage mapping, candidate gene; common mutation (Ser163Arg) found in 7 of 14 families with late-onset retinal degeneration (LORD), a possible model for AMD; C1QTNF5 protein is a small collagen secreted by RPE, a possible constituent of Bruch's membrane; another missense mutation is associated with a complex ocular phenotype including lens zonules | Ayyagari 05; Hayward 03 |
|
MFRP, NNO2, MCOP2; 606227, 609549, 611040 |
11q23.3 | recessive microphthalmos and retinal disease syndrome; recessive nanophthalmos; protein: membrane-type frizzled-related protein [Gene] | animal model, candidate gene; syndrome includes posterior microphtalmos, RP, foveoschisis, and optic disc drusen; nanophthalmos involves abnormal growth of the eye resulting in extreme hyperopia without retinal disease; the rd6 mouse has an Mfrp mutation; frizzled-related proteins play complex roles in cell development and maintenance | Ayala-Ramirez 06; Kameya 02; Sundin 05 |
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Chromosome 12 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
CACNA2D4, RCD4; 608171, 610478 |
12p13.33 | recessive cone dystrophy; protein: calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Gene] | animal model, candidate gene; one affected homozygous sibship; protein is a subunit of a voltage-gated L-type calcium channel complex in photoreceptor ribbon synapses; first identified in a spontaneous, homozygous mouse model with retinopathy similar to CSNB; gene is widely expressed | Qin 02; Wycisk 06; Wycisk 06a |
|
GNB3, CSNB1H; 139130, 145500, 617024 |
12p13.31 | recessive congenital stationary night blindness; protein: G protein subunit beta 3 [Gene] | whole-exome sequencing; homozygous and compound heterozygous mutations in multiple families; mutations cause an uncommon form of CSNB, type 1H, with childhood night-blindness, late-onset photophobia and retinal ON bipolar cell dysfunction but otherwise normal vision; the GNB3 protein modulates cone-responsive ON bipolar cell response; there is suggestive association of polymorphic variation in GNB3 with essential hypertension; naturally occurring chicken model, Gβ3 | Arno 16a; Tummala 06; Vincent 16 |
|
PDE6H, ACHM6, RCD3, RCD3A; 610024, 601190 |
12p12.3 | recessive achromatopsia, incomplete; protein: phosphodiesterase 6H,cGMP-specific, cone, gamma [Gene] | candidate gene; a homozygous Ser12X mutation in PDE6H from a common ancestor was found in Dutch and Belgium families; an earlier report of a heterozygous mutation in patients with cone dystrophy was not supported by subsequent studies; PDE6H protein is expressed in all cone photoreceptors although patients have preserved short-wavelength cone function | Kohl 12; Piri 05 |
|
COL2A1, AOM, STL1; 108300, 120140, 132450, 609508 |
12q13.11 | dominant Stickler syndrome, type I; dominant bone dysplasias, developmental disorders, osteoarthritic diseases, and syndromic disorders; protein: collagen, type II, alpha 1 [Gene] | linkage mapping, candidate gene; mutations in COL2A1 cause a broad range of dominant diseases including Stickler syndrome, type 1,; symptoms differ substantially between individuals and may be limited to retinal or vitreoretinal findings alone, such as rhegmatogenous retinal detachment; see also COL9A1 and COL11A1; Stickler syndrome involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment | Francomano 87; Go 03; Lee 89; Snead 99 |
|
CODA1; 611543 |
12q13.13-q14.3 | dominant cavitary optic disc anomalies | linkage mapping; a maximum LOD score of 4.1 in one US family of Russian origin; affected individuals have optic nerve head anomalies including optic pits, coloboma and "morning glory" anomaly, with serous macular detachments and macular disease, but normal intraocular pressures | Fingert 07; Honkanen 07 |
|
RDH5, RDH1; 136880, 601617 |
12q13.2 | recessive fundus albipunctatus; recessive cone dystrophy, late onset; protein: 11-cis retinol dehydrogenase 5 [Gene] | candidate gene; stationary night blindness with subretinal spots and delayed dark adaptation; protein is an RPE microsomal enzyme involved in converting 11-cis retinol to 11-cis retinal; extremely delayed rod and cone resensitization in null mutation; same pathway as RDH11 and RDH12 | Cideciyan 00; Nakamura 00; Simon 96; Yamamoto 99 |
|
CCT2, CCTB; 605139 |
12q15 | recessive Leber congenital amaurosis; protein: chaperonin containing TCP1 (T-complex polypeptide 1) subunit 2 [Gene] | whole exome sequencing; compound heterozygous mutations in a Chinese LCA family; a zebrafish model with a homozygous mutation develops abnormal eyes and retina; the two affected patients have retinal dystrophy, hearing loss and developmental delay but no other features of Bardet-Biedl syndrome; the CCT2 protein is a subcomponent of a chaperon complex which stabilizes protein folding and transport | Minegishi 16; Minegishi 18 |
|
BBS10, FLJ23560; 209900, 610148 |
12q21.2 | recessive Bardet-Biedl syndrome; protein: BBS10 (C12orf58) chaperonin [Gene] | linkage mapping, candidate gene; large, consanguineous Lebanese family; protein is a putative group II chaperonin; antisense (morpholino) knockdown of gene in zebrafish affects gastrulation movements which is consistent with hypothesis that BBS proteins are involved in planer cell polarity | Stoetzel 06; White 07 |
|
CEP290, BBS14, JBTS5, LCA10, NPHP6, MKS4, SLSN6; 204000, 610142, 610188, 610189, 611134, 611755 |
12q21.32 | recessive Senior-Loken syndrome; recessive Joubert syndrome; recessive Leber congenital amaurosis; recessive Meckel syndrome; protein: centrosomal protein 290 kDa [Gene] | homozygosity and linkage mapping, candidate gene; CEP290 mutations cause at least 20% of LCA, with a single predominant mutation, c.2991+1655A->G; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or LCA; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; homozygous CEP290 mutations in the rd16 mouse and rdAc Abyssian cat; CEP290 protein associates with microtubule proteins in centrosomes and cilia, including the rod connecting cilium; additional symptoms include anosmia (abnormal sense of smell) | Baala 07; Chang 06; den Hollander 06; Frank 07; Leitch 08; McEwen 07; Menotti-Raymond 07; Sayer 06; Valente 06 |
|
POC1B, CORD20; 120970, 614784, 615973 |
12q21.33 | recessive cone-rod dystrophy; recessive Joubert syndrome; protein: POC1 (proteome of centriole 1) centriolar protein B [Gene] | linkage and homozygosity mapping, whole-exome sequencing; a homozygous Arg106Pro mutation was identified in consanguineous Turkish and Iraqi families with non-syndromic cone or cone-rod dystrophy, or with Leber congenital amaurosis, Joubert syndrome and polycystic kidney disease, respectively; different compound heterozygous mutations found in an additional patient with CORD; the POC1B protein localizes to the primary cilium in photoreceptors and knockdown in zebrafish results in abnormal ocular development and retinal degeneration | Beck 14; Durlu 14; Roosing 14 |
|
MVK; 251170, 260920, 610377, 175900 |
12q24.11 | recessive retinitis pigmentosa; recessive mevalonic aciduria; recessive hyper-IgD syndrome; protein: mevalonate kinase [Gene] | whole-exome sequencing; compound heterozygote and homozygous Dutch patients; recessive MVK mutations often cause complex inborn errors of metabolism resulting in mevalonic aciduria, hyper-IgD syndrome and, possibly, porokeratosis, a skin disease; the Dutch RP patients have mild mevalonic aciduria but no other patent extra-ocular symptoms | Siemiatkowska 13 |
|
IFT81, CDV1; 605489, 617895 |
12q24.11 | recessive cone-rod dystrophy; recessive spectrum of ciliopathies including retinal dystrophy; protein: homolog of chlamydomous intraflagelar transport protein 81 [Gene] | whole-exome sequencing; compound heterozygous IFT81 mutations found in one patient with non-syndromic CORD; otherwise, recessive mutations cause a spectrum of ciliopathy-related disorders including asphyxiating short-rib thoracic dysplasia, polydactyly, retinal dystrophy and, possibly, nephronophthisis; the IFT81 protein is a component of intraflagellar transport complex B, involved in anterograde ciliary transport | Dharmat 17; Duran 16; Perrault 15 |
|
COQ5, COQ10D9; 616359, 619028 |
12q24.31 | recessive retinitis pigmentosa; protein: coenzyme Q5 methyltransferase [Gene] | candidate gene; distinct biallelic mutations in the COQ5 gene were found in two families with recessive RP; the families were part of a cohort of patients with inherited retinal diseases screened for genes involved in coenzyme Q10 biosynthesis; other recessive mutations in this gene cause coenzyme Q10 deficiency (COQ10D9); coenzyme Q10 is a critical, multi-protein component of mitochondrial respiration, and mutations in CoQ10 genes cause a number of complex systemic diseases | Jurkute 22 |
|
C12orf65, COXPD7, SPG55; 613541, 613559, 615035 |
12q24.31 | recessive spastic paraplegia, neuropathy and optic atrophy; protein: chromosome 12 open reading frame 65 [Gene] | linkage mapping, whole-exome sequencing; recessive C12orf65 mutations identified in several consanguineous families with variable, early onset, spastic paraplegia, neuropathy and optic atrophy (SPG55) and/or combined oxidative phosphorylation deficiency (COXPD7); the C12orf65 protein is a nuclear-encoded mitochondrial matrix protein involved in mitochondrial protein synthesis | Shimazaki 12; Tucci 13 |
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Chromosome 13 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
ITM2B, ABRI; 117300, 176500, 603904 |
13q14.2 | dominant retinal dystrophy; dominant dementia, familial; protein: integral membrane protein 2B [Gene] | whole-exome sequencing; a missense mutation identified segregating in a large family with inner retinal dysfunction and ganglion cell abnormalities but normal cerebral functioning; protein elongation mutations found in families with dominant dementia and cerebral amyloid angiopathy; protein of unknown function which localizes to retinal inner nuclear and ganglion cell layers | Audo 13 |
|
RB1; 180200 |
13q14.2 | dominant germline or somatic retinoblastoma; benign retinoma; pinealoma; osteogenic sarcoma; protein: retinoblastoma protein 1 [Gene] | deletion mapping, candidate gene; requires 'second hit' loss of heterozygosity; 5 to 10% inherited, 20 to 30% new mutation, remainder sporadic; preferential loss of maternal chromosome; protein is cell-cycle regulatory element | Dryja 89; Francke 76; Friend 86; Knudson 71; Lee 87; Lohmann 96; Mancini 94; Sparkes 83; Toguchida 93 |
|
RCBTB1, RCBT1; 607867 |
13q14.2 | recessive syndromic and non-syndromic retinal dystrophy; dominant familial exudative vitreoretinopathy and Coats disease; protein: RCC1 domain- and BTB domain-containing protein 1 [Gene] | homozygosity mapping, whole-exome sequencing; heterozygous frame-shift mutations detected in two Taiwanese families with dominant FEVR and Coats disease (and three unaffected "carriers"); homozygous mutations detected in a consanguineous family, and other families, with a range of symptoms including retinal dystrophy alone or with goiter, ovarian insufficiency and intellectual impairment; the RCBTB1 protien is involved in cell-cell signaling and protein ubiquitination | Coppieters 16; Wu 16 |
|
GRK1, RHOK, RK; 180381, 258100 |
13q34 | recessive congenital stationary night blindness, Oguchi type; protein: rhodopsin kinase [Gene] | candidate gene; several mutations in Japanese; see also SAG | Cideciyan 98; Khani 98; Maw 98; Yamamoto 97 |
|
STGD2; 153900 |
not 13q34 | dominant macular dystrophy, Stargardt type | linkage mapping, candidate gene; large American family, later remapped to ELOVL4 on 6q11 | Zhang 94; Zhang 01 |
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Chromosome 14 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
ACHM1, RMCH; 216900 |
not 14 | recessive rod monochromacy or achromatopsia [Gene] | uniparental isodisomy; total color blindness or 'day blindness'; mutations later identified in CNGB3 | Pentao 92 |
| RP16 | not 14 | recessive retinitis pigmentosa | linkage mapping; withdrawn by senior author; 'RP16' withdrawn | Bruford 94 |
| MCDR4 | 14q11.2 | dominant macular dystrophy, North Carolina-like with progressive sensorineural hearing loss [Gene] | linkage mapping; English family | Francis 03 |
|
RPGRIP1, CORD13, LCA6; 120970, 204000, 605446, 608194, 613826 |
14q11.2 | recessive Leber congenital amaurosis; recessive cone-rod dystrophy; protein: RP GTPase regulator-interacting protein 1 [Gene] | candidate gene; mutations in 4 to 6% of patients; RPGRIP1 protein interacts with RPGR, with species-specific colocalization (rod and cone outer segments in humans, connecting cilia in mice); high sequence similarity to RPGRIP1L; suggestion of same gene in the cord1 longhaired dachshund dog but later discounted | Boylan 00; Dryja 01; Hameed 03; Hanein 04; Hong 01; Kuznetsova 12; Mavlyutov 02; Mellersh 06; Roepman 00 |
|
NRL, RP27; 162080, 268000, 613750 |
14q11.2 | dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: neural retina lucine zipper [Gene] | linkage mapping, candidate gene; NRL is a retinal transcription factor which interacts with CRX, promotes transcription of rhodopsin and other retinal genes, and is required for rod photoreceptor development; recessive disease includes clumped pigmentary degeneration and preserved blue cone function | Bessant 99; Farjo 97; Mears 01; Nishiguchi 04a; Rehemtulla 96; Swaroop 92; Yang-Feng 92 |
|
OTX2, CPHD6, MCOPS5; 600037, 610125, 613986 |
14q22.3 | dominant Leber congenital amaurosis and pituitary dysfunction; recessive microphthalmia; dominant pattern dystrophy; protein: orthodenticle homeobox 2 protein [Gene] | candidate gene; de novo mutation in a boy with early onset retinal dystrophy and pituitary dysfunction including failure to thrive, poor feeding and growth hormone deficiency; recessive mutations in OTX2 cause microphthalmia and cerebral abnormalities; heterozygous missense variant found in two families with dominant pattern dystrophy affecting the retinal pigment epithelium; OTX2 protein is a member of the bicoid family of homeodomain transcription factors expressed in brain and involved in retinal and ocular development | Henderson 09; Vincent 14 |
|
RDH11; 607849 |
14q24.1 | recessive retinitis pigmentosa, syndromic; protein: retinol dehydrogenase 11 (all-trans/9-cis/11-cis) [Gene] | whole-exome sequencing; compound heterozygous frame-shift mutations identified in an Italian-American family with recessive RP and facial dysmorphology, developmental delay, and short stature; the RDH11 protein is a widely-expressed enzyme with a role in oxidizing 11-cis-retinol to 11-cis-retinal in the visual cycle, a role similar to RDH5 and RDH12 | Xie 14 |
|
RDH12, LCA13, RP53; 204000, 268000, 608830, 612712 |
14q24.1 | recessive Leber congenital amaurosis with severe childhood retinal dystrophy; dominant retinitis pigmentosa; protein: retinol dehydrogenase 12 [Gene] | homozygosity mapping, candidate gene, linkage mapping; French families and consanguineous Austrian families; symptoms include severe progressive rod-cone dystrophy and macular atrophy; may account for 4% of recessive LCA; protein is involved in visual cycle and has unusual dual specificity for all-trans-retinols and cis-retinols; same pathway as RDH5 and RDH11; also a large North Carolina family with a dominant mutation | Fingert 08; Haeseleer 02; Janecke 04; Perrault 04 |
|
TTLL5, CORD19, STAMP; 120970, 612268, 615860 |
14q24.3 | recessive cone and cone-rod dystrophy; protein: tubulin tyrosine ligase-like family member 5 [Gene] | whole-exome sequencing; homozygous and compound heterozygous mutations found in four unrelated families, primarily of European origin, with "cone first" retinal dystrophy; the TTLL5 protein is a tubulin glutamylase implicated in polyglutamylation of primary photoreceptor cilia and sperm flagellar function, thus this is an additional retinal ciliopathy | Sergouniotis 14 |
|
SPATA7, HSD3, LCA3, RP94; 204000, 268000, 604232, 609868 |
14q31.3 | recessive Leber congenital amaurosis; recessive RP, juvenile; protein: spermatogenesis associated protein 7 [Gene] | homozygosity mapping, sequencing; Saudi Arabian, Dutch and other families including original LCA3 family; the SPATA7 protein is found in spermatocytes and multiple retinal layers; not a ciliary protein | Stockton 98; Wang 09; Zhang 03 |
|
USH1A, USH1; 276900 |
not 14q32 | recessive Usher syndrome, French [Gene] | linkage mapping; original mapping in French families was questioned later; at least seven of ten USH type I families from the region have mutations in MY07A | Gerber 06; Kaplan 91; Larget-Piet 94 |
|
TTC8, BBS8, RP51; 209900, 268000, 608132, 613464 |
14q32.11 | recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: tetratricopeptide repeat domain 8 [Gene] | candidate gene; TTC8 protein includes a prokaryotic domain, pilF, involved in pilus formation, localizes to ciliated structures such as the connecting cilium in photoreceptors, and interacts with PCM1, a protein involved in ciliogenesis; thus BBS proteins play a role in basal body - ciliary function; multiple BBS8 families, one with random left-right body axis symmetry; non-syndromic recessive RP in a consanguineous Pakistani family | Ansley 03; Goyal 15; Riazuddin 10 |
|
FBLN5, ARMD3; 603075, 604580, 608895 |
14q32.12 | familial macular dystrophy, age-related; protein: fibulin 5 [Gene] | candidate gene; missense changes found in 1.7% of AMD patients, presumed to be dominant acting; fibulins are extracellular matrix proteins with multiple EGF domains, others include EFEMP1 and FBLN6 | Stone 04 |
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Chromosome 15 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
TRPM1, CSNB1C, MLSN1; 310500, 603576, 613216 |
15q13.3 | recessive congenital stationary night blindness, complete; protein: transient receptor potential cation channel, subfamily M, member 1 (melastatin) [Gene] | animal model, candidate gene; TRPM1 was originally identified as the cause of recessive CSNB and coat color abnormalities in Appaloosa horses; frequent cause of CSNB in isolated, consanguineous and multiplex cases; affected individuals have myopia and reduced central vision but normal skin pigmentation; TRPM1 protein mediates transient Ca+ flux in retinal ON bipolar cells initiating the signaling cascade resulting in the light-evoked response of the inner retina | Audo 09; Bellone 08; Li 09a; van Genderen 09 |
|
TUBGCP4, MCCRP3; 609610, 616335 |
15q15.3 | recessive chorioretinopathy and microcephaly; protein: tubulin gamma complex-associated protein 4 [Gene] | whole exome sequencing; compound heterozygous mutations found in three families with microcephaly, chorioretinopathy and other variable ocular findings including "punched out" retinal lesions; the families share a synonymous variant which induces exon skipping; the TUBGCP4 protein is involved in microtubule nucleation and organization, and contributes to brain and eye development | Scheidecker 15 |
|
USH1H; 276900, 612632 |
15q22-q23 | recessive Usher syndrome, type 1 [Gene] | linkage; linkage mapping in two Pakistani families (one later shown to have CIB2 mutations) with a maximum two-point LOD score of 5.7, and linkage in a Dutch family with Usher syndrome and congenital cataract | Ahmed 09; Dad 10 |
|
SLC24A1, CSNB1D, NCKX, RODX; 310500, 603617, 613830 |
15q22.31 | recessive congenital stationary night blindness; protein: solute carrier family 24 (sodium/potassium/calcium exchanger) member 1 [Gene] | linkage mapping, candidate gene; homozygous mutations in a large multi-generation Pakistani family; the SLC24A1 gene is expressed in multiple retinal tissues by postnatal day 7 in mice; the gene product is a member of the solute carrier protein family and may affect intracellular calcium levels in retina; an earlier survey failed to find mutations in patients with retinitis pigmentosa | Riazuddin 10a; Sharon 02 |
|
NR2E3, ESCS, PNR, RP37; 268000, 268100, 604485, 611131 |
15q23 | recessive enhanced S-cone syndrome (ESC); recessive retinitis pigmentosa in Portuguese Crypto Jews; recessive Goldmann-Favre syndrome; dominant retinitis pigmentosa; combined dominant and recessive retinopathy; protein: nuclear receptor subfamily 2 group E3 [Gene] | candidate gene; symptoms include increased blue sensitivity, night blindness and retinal degeneration consistent with increased density/sensitivity of blue (S wavelength) cones, a novel gain-of-function disorder; may include clumped pigmentary retinal findings; protein is a ligand-dependent transcription factor; same gene affected in the rd7 mouse; recurrent Gly56Arg mutation causes dominant RP; a recessive mutation in trans to the Gly56Arg mutation causes ESC | Chang 02; Coppieters 07; Escher 09; Gerber 00; Gire 07; Haider 00; Haider 01; Kobayashi 99; Kaplan 99; Sharon 03 |
|
MRST; 602685 |
15q24 | recessive retardation, spasticity and retinal degeneration [Gene] | linkage mapping; inbred Pakistani family | Mitchell 98 |
|
BBS4; 209900, 600374 |
15q24.1 | recessive Bardet-Biedl syndrome; protein: BBS4 protein [Gene] | homozygosity and linkage mapping, candidate gene; approximately 3 to 6% of BBS families; protein similar to O-linked N-acetylglucosamine transferases involved in signal transduction in plants and animals; involved in triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele | Beales 97; Bruford 97; Carmi 95; Katsanis 01; Katsanis 02; Mykytyn 01 |
|
CIB2, DFNB48, KIP2, USH1J; 605564, 609439, 614869 |
15q25.1 | recessive Usher syndrome, type 1J; protein: calcium and integrin binding family member 2 [Gene] | linkage mapping, candidate gene; a homozygous CIB2 mutation was found in a Pakistani family with Usher syndrome, originally called USH1H, but subsequently shown to be outside this region and hence called "USH1J"; other CIB2 mutations found in several Pakistani families with nonsyndromic deafness; CIB2 protein localizes to stereocilia of inner ear hair cells, photoreceptors and RPE; protein is a component of the Usher interactome | Riazuddin 12 |
|
RLBP1, CRALBP; 180090 |
15q26.1 | recessive retinitis pigmentosa; recessive Bothnia dystrophy; recessive retinitis punctata albescens; recessive Newfoundland rod-cone dystrophy; protein: retinaldehyde-binding protein 1 [Gene] | candidate gene; consanguineous Indian family, Swedish families, Newfoundland isolate and others | Burstedt 99; Eichers 02; Maw 97; Morimura 99 |
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Chromosome 16 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
GNPTG; 252605, 607838 |
16p13.3 | recessive retinitis pigmentosa and skeletal abnormalities; recessive mucolipidosis III gamma; protein: N-acetylglucosamine-1-phosphate transferase gamma subunit [Gene] | whole-exome sequencing; exome sequencing identified a homozygous deletion in a consanguineous Canadian family with RP and spondyloepiphyseal dysplasia; other mutations in GNPTG cause mucolipidosis with skeletal and joint abnormalities but no reported retinal findings; GNPTG protein is involved in post-translational modification and trafficking of lysosomal hydrolyses | Schrader 11 |
|
IFT140, MZSDS, RP80, SRTD9, WDTC2; 266920, 268000, 614620, 617781 |
16p13.3 | recessive Mainzer-Saldino syndrome; recessive retinitis pigmentosa; recessive Leber congenital amaurosis; protein: intraflagellar transport 140 Chlamydomonas homolog protein [Gene] | whole-exome sequencing, targeted ciliome resequencing; symptoms of Mainzer-Saldino syndrome are highly variable but usually include skeletal abnormalities, chronic renal disease, retinal dystrophy and cerebellar ataxia, consistent with defects in primary cilia in bone, kidney, brain and retina; diseases with overlapping symptoms include asphyxiating thoracic dystrophy, and Jeune and Sensenbrenner syndromes; compound heterozygous mutations found in Chinese patients with LCA or RP but without additional symptoms; IFT140 codes for a subunit of intraflagellar transport complex A, involved in activity of primary cilia including photoreceptor cilia | Perrault 12a; Schmidts 13; Xu 15a |
|
CLUAP1, IFT38; 616787 |
16p13.3 | recessive Leber congenital amaurosis; protein: clusterin associated protein 1 [Gene] | whole-exome sequencing; a single homozygous damaging CLUAP1 missense mutation was identified in an isolated (simplex) LCA patient; a homozygous zebrafish knockout of cluap1 develops photoreceptor cell death by day 5 of embryogenesis; the CLUAP1 protein plays a central role in photoreceptor ciliogenesis of the vertebrate eye | Lee 14; Soens 16 |
|
ABCC6, ARA, MRP6, PXE; 177850, 264800, 603234 |
16p13.11 | recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum; protein: ATP-binding casette, subfamily C, member 6 [Gene] | linkage mapping, candidate gene; symptoms include progressive abnormalities in skin, retinal Bruch membrane and arteries leading to hemorrhage, calcification and vascular changes, with retinal angioid streaks; may be an extracellular transport protein; ABCC6 mutations in 60 to 80% of patients | Bergen 00; Le Saux 00; Le Saux 01; Ringpfeil 00; Struk 97; van Soest 97 |
|
RP22; 268000, 602594 |
16p12.3-p12.1 | recessive retinitis pigmentosa [Gene] | homozygosity mapping; Indian families | Finckh 98 |
|
CLN3, JNCL; 607042, 204200 |
16p11.2 | recessive Batten disease (ceroid-lipofuscinosis, neuronal 3), juvenile; protein: Batten disease protein [Gene] | linkage mapping, candidate gene; symptoms include early-onset retinal pigmentary degeneration with later mental deterioration; protein is integral to Golgi membranes; other ceroid lipofuscinosis genes with substantial retinal involvement include PPT1 | Batten Disease 95; Eiberg 89; Gardiner 90; Kremmidiotis 99; Mitchison 95; Mitchison 95a; Mitchison 97; Munroe 97 |
|
ZNF423, NPHP14, JBTS19; 213300, 256100, 604557, 614844 |
16q12.1 | recessive Jobert syndrome; recessive nephronophthisis; protein: zinc finger protein 423 [Gene] | whole-exome sequencing; three families with homozygous mutations causing Joubert syndrome or nephronophthisis; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and severe retinal dystrophy; one of a large class of ciliary and centrosomal ciliopathies affecting kidney, brain and retinal cells; ZNF423 protein is involved in DNA damage response | Chaki 12 |
|
RPGRIP1L, JBTS7, KIAA1005, MKS5, NPHP8; 610937, 611560, 611561 |
16q12.2 | recessive Joubert syndrome; recesssive Meckel syndrome; protein: RP GTPase regulator-interacting 1 like protein [Gene] | homozygosity mapping, candidate gene; several families with Joubert syndrome; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and rare retinal dystrophy; one of a growing class of ciliopathy-associated genes affecting photoreceptors; RPGRIP1L has high sequence similarity to RPGRIP1; the protein interacts with NPHP4 protein and other ciliary proteins and is a modifier of other retinal ciliopathies | Arts 07; Delous 07; Khanna 09 |
|
BBS2, RP74; 268000, 209900, 606151, 615981, 616562 |
16q13 | recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: BBS2 protein [Gene] | linkage mapping, candidate gene; BBS2 mutations found in a large Bedouin family and approximately 20% of BBS families; protein of unknown function with sequence similarity to BBS7; missense mutations in BBS2 may also cause non-syndromic retinitis pigmentosa alone; triallelic inheritance may be required for Bardet-Biedl syndrome, that is, two BBS2 alleles and a third BBS1, BBS4 or MKKS allele | Beales 97; Beales 01; Bruford 97; Katsanis 01; Kwitek-Black 93; Nishimura 01; Shevach 15; Woods 99 |
|
ARL2BP, BART, BART1, RP82; 615407, 615434 |
16q13.3 | recessive retinitis pigmentosa; protein: ADP-ribosylation factor-like 2 binding protein [Gene] | homozygosity mapping, whole-exome sequencing; unrelated homozygous mutations detected in two consanguineous families, Arab-Muslim and European, respectively; affected individuals have RP and variable additional findings consistent with cilia-associated diseases; the ARL2BP protein is widely-expressed, localizes to photoreceptor connecting cilia and may play a role in trafficking of ciliary proteins and factors | Davidson 13 |
|
CNGB1, CNCG2, CNCG3L, GAR1, GARP, RP45; 268000, 600724, 613767, 615407 |
16q21 | recessive retinitis pigmentosa; protein: rod cGMP-gated channel beta subunit [Gene] | homozygosity mapping, candidate gene; consanguineous French family; CNGB1 encodes a complex transcription unit with at least 6 non-overlapping transcripts, one of which is the disease gene in this case | Ardell 00; Bareil 01 |
|
OPA8; 165500 |
16q21-q22.3 | dominant optic atrophy, Kjer type | linkage mapping; mapped in a large Italian family with a maximum lod score of 8.8; optic atrophy in the family is frequently associated with late-onset sensorineural hearing loss, increased central conductance times and cardiac abnormalities accompanied by increased mitochondrial biogenesis | Carelli 11 |
|
CDH3, CDHP, PCAD; 114021, 601553 |
16q22.1 | recessive macular dystrophy, juvenile with hypotrichosis; protein: cadherin 3, type 1, placental [Gene] | homozygosity mapping, candidate gene; mutations found in two extended, unrelated, consanguineous Arab Israeli (Druze) families; involves early hair loss followed by progressive macular degeneration culminating in blindness; cadherins are calcium-dependent cell-cell adhesion factors | Indelman 02; Sprecher 01 |
|
DHX38, PRP16, RP84; 605584, 618220 |
16q22.2 | recessive retinitis pigmentosa, early onset with macular coloboma; protein: DEAH (Asp-Glu-Ala-His) box polypeptide 38 [Gene] | homozygosity mapping, candidate gene; homozygosity mapping in a consanguineous Pakistani family with recessive RP and macular coloboma (holes) led to detection of a homozygous missense mutation in DHX38; additional mutations have not been reported; the DHX38 protein is a putative RNA helicase involved in pre-RNA splicing | Ajmal 14 |
|
ADAMTS18, KNO2; 607512, 608454 |
16q23.1 | recessive Knobloch syndrome; recessive retinal dystrophy, early onset; protein: ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene] | homozygosity mapping, whole-exome sequencing; Knobloch syndrome is a developmental disorder of the eye and occipital region of the skull, with symptoms including myopia, cataract, dislocated lens, vitreoretinal degeneration and retinal detachment; a homozygous missense mutation was identified in ADAMTS18 in an Italian patient with early-onset retinal dystrophy and autism disorder but no additional eye findings; the protein is expressed in adult photoreceptors and knockdown in medaka fish produces a phenotype similar to the human disease | Aldahmesh 11a; Peluso 13 |
|
FHASD; 609218 |
16q23.2-q24.2 | recessive foveal hypoplasia and anterior segment dysgenesis [Gene] | linkage mapping; consanguineous Pakistani family; symptoms include nystagmus and poor vision but no non-ocular findings | Pal 04 |
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Chromosome 17 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
CACD, CACD1; 215500 |
17p13 | dominant central areolar choroidal dystrophy [Gene] | linkage mapping | Hughes 98; Lotery 96 |
|
RCD2; 601777 |
same as GUCY2D | dominant cone-rod dystrophy, progressive; recessive cone-rod dystrophy [Gene] | linkage mapping, mutation screening; a CORD family was mapped to this region and incorrectly called "CORD5", but was later found to have a GUCY2D mutation; the original CORD5 family has a mutation in PITPNM3 | Balciuniene 95; Köhn 07; Payne 99; Small 95; Small 96; Udar 03 |
|
PRPF8, PRPC8, RP13; 268000, 600059, 607300 |
17p13.3 | dominant retinitis pigmentosa; protein: pre-mRNA processing factor 8 [Gene] | linkage mapping, candidate gene; South African and European families; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF6 and PRP31 (RP11) | Goliath 95; Greenberg 94; Kojis 96; McKie 01; Tarttelin 96 |
|
AIPL1, LCA4; 204000, 604392, 604393 |
17p13.2 | recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: arylhydrocarbon-interacting receptor protein-like 1 [Gene] | linkage mapping, candidate gene; locus distinct from CORD5 and RP13; accounts for 5 to 10% of recessive LCA; expression limited to photoreceptors and pineal gland; protein may be involved in nuclear transport or chaperone activity and localizes to rods only, from inner segments through outer plexiform layer | Hameed 00; Hanein 04; Sohocki 99; Sohocki 00; van der Spuy 02 |
|
PITPNM3, CORD5, NIR1; 120970, 600977, 608921 |
17p13.2 | dominant cone-rod dystrophy; protein: phosphatidylinositol transfer membrane-associated family member 3 [Gene] | linkage mapping, candidate gene; CORD5 was originally mapped in a Swedish family, one of two later found to have a missense mutation in PITPNM3; protein is involved in phospholipid transport and photoreceptor membrane renewal; mutations in the homologous Drosophila gene cause retinal degeneration B (rdgB) | Balciuniene 95; Köhn 07 |
|
GUCY2D, CORD6, LCA1, RETGC, RETGC1; 120970, 204000, 600179, 601777 |
17p13.1 | recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: retinal-specific guanylate cyclase [Gene] | linkage mapping, candidate gene; North African and other families; causes 10 to 20% of recessive LCA and up to 40% of dominant COD or CORD; same gene affected in rd/rd chicken; lentiviral expression of GUCY2D restores vision in this model; most mutations causing COD or CORD are found in codon 838 (arginine) and arise on different haplotypes | Camuzat 95; Camuzat 96; Hanein 04; Kelsell 97; Kelsell 98a; Kitiratschky 08; Lotery 00; Payne 01; Perrault 96; Perrault 98; Semple-Rowland 98; Williams 06 |
| CORD4 | 17q | cone-rod dystrophy [Gene] | proposed association with neurofibromatosis; with limited supporting evidence and never confirmed; presumed dominant acting | Klystra 93 |
|
UNC119, HRG4; 604011 |
17q11.2 | dominant cone-rod dystrophy; protein: human homolog of C. elegans unc119 protein [Gene] | candidate gene; missense mutation in one family; UNC119 is a photoreceptor synaptic protein homologous to C. elegans neuroprotein unc119; protein localizes to rod and cone ribbon synapses | Kobayashi 00 |
|
GPR179, CSNB1E; 310500, 614515, 614565 |
17q12 | recessive complete congenital stationary night blindness; protein: G protein-coupled receptor 179 [Gene] | animal model, whole-exome sequencing; mutations in several independently-ascertained families; homozygous GPR179 mutation in the nob5 mouse; GPR179 is a G protein-coupled receptor expressed in retinal bipolar cells; CSNB patients have reduced or absent b-wave response as a result of bipolar cell abnormalities, consistent with the function of GRP179 protein | Audo 12; Peachey 12 |
|
MKS1, BBS13; 209900, 249000, 609883 |
17q22 | recessive Bardet-Biedl syndrome; recessive Meckel syndrome; protein: Meckel syndrome type 1 protein [Gene] | candidate gene; a pair of recessive MKS1 mutations in a Turkish BBS patient and heterozygous variants in patients with mutations in other BBS genes suggest that MKS1 mutations can be a primary cause of BBS, may cause digenic disease, and may modify clinical expression; Meckel syndrome is a severe congenital disease including brain malformations, kidney and liver disease, and polydactyly; MKS1 protein is a component of the flagellar basal body | Kyttälä 06; Leitch 08 |
|
CA4, RP17; 268000, 600852, 114760 |
17q23.2 | dominant retinitis pigmentosa; protein: carbonic anhydrase IV [Gene] | linkage mapping, candidate gene; mutations in CA4 may cause the RP17 form of RP but there is doubt - the original Arg14Trp "mutation" is found in 4% of Swedish controls and no additional mutations have been reported to segregate with disease; same chromosomal site as dog prcd progressive rod-cone degeneration; carbonic anhydrases are Zn-containing enzymes that catalyze hydration of carbon dioxide; CA4 protein is a membrane-anchored enzyme found in pulmonary capillaries, proximal renal tubules and retinal choriocapillaris | Acland 98; Alvarez 07; Bardien 95; Bardien-Kruger 99; den Hollander 99; Inglehearn 98; Köhn 08; Rebello 04 |
|
RGS9; 604067 |
17q24.1 | recessive delayed cone adaptation; protein: regulator of G-protein signalling 9 [Gene] | candidate gene; homozygous mutations in several unrelated patients with slow cone adaptation to sudden light changes (bradyopsia); rods in knockout mice show slowed flash recovery; protein forms a heterotrimeric complex with R9AP and is a photoreceptor-specific member of a family of proteins that deactivate transducins | Chen 00; He 98; Nishiguchi 04 |
|
ARSG; 610008 |
17q24.2 | recessive Usher syndrome, atypical; protein: arylsulfatase G [Gene] | whole-exome and whole-genome sequencing; a homozygous missense mutation was found in five patients with late onset retinal degeneration and sensorineural hearing loss; the patients are from three Yemenite Jewish families and first displayed symptoms around age 40; retinal findings include a distinctive ring scotoma; the ARSG protein is a sulfatase enzyme involved in hormone biosynthesis, cell signaling and degradation of heparin sulfate; ARSG mutations in other animals cause neuronal ceroid lipofuscinosis | Khateb 18 |
|
USH1G, SANS; 276900, 606943, 607696 |
17q25.1 | recessive Usher syndrome; protein: human homolog of mouse scaffold protein containing ankyrin repeats and SAM domain [Gene] | linkage mapping, candidate gene; consanguineous Pakistani family from Jordan; linkage region overlaps isolated deafness loci DFNA20 and DFNA26; mutations in mouse Sans cause Jackson shaker (js) phenotype with deafness and vestibular dysfunction; SANS associates with the USH1C protein as part of hair cell bundles | Kikkawa 03; Mustapha 02a; Weil 03 |
|
PRCD, RP36; 268000, 610598, 610599 |
17q25.1 | recessive retinitis pigmentosa; protein: progressive rod-cone degeneration protein [Gene] | animal model, candidate gene; a single homozygous missense change accounts for recessive prcd in many dog breeds; the same mutation, Cys2Tyr (TGC→TAC), is found in a Bangladesh individual with recessive RP; the PRCD transcript is expressed throughout the retina and at much lower levels in other tissues; protein of unknown function; additional consanguineous Israeli Arab family | Goldstein 06; Nevet 10; Zangerl 06 |
|
FSCN2, RP30; 268000, 607643, 607921 |
17q25.3 | dominant retinitis pigmentosa; dominant macular dystrophy; protein: retinal fascin homolog 2, actin bundling protein [Gene] | candidate gene; mutations in FSCN2 may cause RP and/or MD but there is doubt - the 208delG "mutation" is a benign polymorphism in Asians (in heterozygotes) and no additional, pathogenic mutations have reported; the FSCN2 protein is a photoreceptor-specific paralog of fascin which crosslinks and bundles f-actin | Bardien-Kruger 99; Tubb 00; Wada 01; Wada 03; Zhang 07a |
|
PDE6G, RP57; 180073, 268000, 613582 |
17q25.3 | recessive retinitis pigmentosa; protein: phosphodiesterase 6G cGMP-specific rod gamma [Gene] | homozygosity mapping, candidate gene; homozygous splice-site mutation in a large, consanguineous Arab Israeli family; symptoms include early-onset RP with macular involvement; PDE6G is an inhibitory subunit of cGMP phosphodiesterase, a key enzyme complex in phototransduction | Dvir 10; Dollfus 93 |
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Chromosome 18 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
LAMA1, PTBHS; 150320, 615960 |
18p11.31-p11.23 | recessive retinal dystrophy and cerebellar dysplasia; protein: alpha 1 laminin [Gene] | homozygosity mapping, whole-exome sequencing; mutations in LAMA1 cause Poretti-Boltshauser syndrome (PTBHS) with variable developmental abnormalities of the cerebellum, cerebellar cysts, eye movement disorders and retinal dystrophy; laminins are extracellular basement membrane proteins involved in embryogenesis | Aldinger 14 |
|
AFG3L2, SCA28, SPAX5; 604581, 614487, 610246 |
18p11.21 | dominant optic atrophy, non-syndromic; dominant spinocerebellar ataxia; recessive spastic ataxia; protein: ATPase family gene 3-like peptidase subunit 2 [Gene] | whole exome sequencing, candidate gene; a dominant-acting missense mutation was identified in French and Italian patients with optic atrophy and either mild intellectual disability or no neurologic symptoms; most mutations in AFG3L2, both dominant and recessive, cause cerebellar diseases such as spinocerebellar ataxia 28 (SCA28) or spastic ataxia 5 (SPAX5), without reported retinal findings; the AFG3L2 protein is a nuclear-coded mitochondrial protein, a subunit of an ATP-dependent proteolytic complex, involved in degradation of misfolded proteins and ribosome function | Charif 15; Colavito 17 |
|
OPA4; 165500, 605293 |
18q12.2-q12.3 | dominant optic atrophy, Kjer type [Gene] | linkage mapping; American family of German descent; previously linked to Kidd blood group | Kerrison 99; Kivlin 83 |
|
CORD1; 120970, 600624 |
18q21.1-q21.3 | cone-rod dystrophy; de Grouchy syndrome [Gene] | deletion mapping; isolated case; symptoms include COD, retardation and hearing impairment | Manhant 95; Warburg 91 |
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Chromosome 19 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
REEP6, RP77; 268000, 609346, 617304 |
19p13.3 | recessive retinitis pigmentosa; protein: receptor accessory protein 6 (receptor expression enhancer protein 6) [Gene] | whole-genome and whole-exome sequencing; compound heterozygous REEP6 mutations found in five unrelated families with recessive RP from the United States and UK, and a homozygous mutation found in a North African consanguineous patient with recessive rod-cone dystrophy; REEP6 activity evaluated in 3D retinal organoid cups; the specific role of the REEP6 protein is unclear, possibly involved in endoplasmic reticulum function and protein transport | Agrawal 17; Arno 16; Méjécase 18 |
|
RAX2, ARMD6, CORD11, QRX, RAXL1, RP95; 120970, 610362, 610381, 620102 |
19p13.3 | cone-rod dystrophy, isolated; age-related macular degeneration, isolated; recessive retinitis pigmentosa; protein: retina and anterior neural fold homeobox 2 transcription factor [Gene] | candidate gene; RAX2 protein is a modulator of photoreceptor gene expression, present in human and bovine genomes but not, apparently, in the mouse genome; three different, heterozygous, mutations found in two isolated CORD patients and one AMD patient; mode of inheritance unknown | Wang 04 |
|
C3, ARMD9, ASP; 120700, 603075, 611378 |
19p13.3 | age-related macular degeneration, complex etiology; protein: complement component 3 [Gene] | association study; the Arg80Gly polymorphism in C3 (rs22230199, also called Arg102Gly) is associated with AMD in English and Scottish populations; homozygotes for the glycine allele have a 2-to-3 fold increase in life-time risk; the arginine and glycine alleles produce the "slow" and "fast" C3 alleles, respectively; the Gly allele has a 17% frequency in Caucasians but is rare or absent from Africans and Asians; AMD is also associated with complement genes C2, CFB and CHF | Maller 07; Yates 07 |
|
ARHGEF18, RP78; 268000, 616432, 617433 |
19p13.2 | recessive retinitis pigmentosa; protein: Rho/Rac guanine nucleotide exchange factor 18 [Gene] | whole-genome and whole-exome sequencing; homozygous and compound heterozygous ARHGEF18 mutations found in three unrelated patients with non-syndromic, simplex RP, ascertained through the UK NIHR-Bioresource Rare Disease Consortium; the ARHGEF18 gene is widely expressed and the protein is involved in epithelial cell tight-junction formation and apicobasal polarity determination | Arno 17 |
|
PNPLA6, BNHS, OMCS, SPG39; 215470, 275400, 603197, 612020 |
19p13.2 | recessive Boucher-Neuhauser syndrome with chorioretinal dystrophy; protein: patatin-like phospholipase domain-containing protein 6 [Gene] | whole exome sequencing, candidate gene; homozygous and compound heterozygous mutations in PNPLA6 cause a wide range of variable symptoms including spinocerebellar ataxia, hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser, Oliver-McFarlane or Gordon Holmes syndromes); symptoms may include peripheral neuropathy and cognitive abnormalities; the PNPLA6 protein is a multifunctional phospholipase which de-esterifies phosphatidylcholine | Kmoch 15; Synofzik 14; Topaloglu 14 |
|
RGS9BP, R9AP, RGS9; 607814 |
19q13.12 | recessive delayed cone adaptation; protein: regulator of G-protein signalling 9-binding protein [Gene] | candidate gene; homozygous mutations in several unrelated patients with slow cone adaptation to sudden light changes (bradyopsia); protein binds to and is a regulator of RGS9, a photoreceptor-specific member of a family of proteins that deactivate transducins | Hu 02; Nishiguchi 04 |
| MCDR5 | 19q13.31-q13.32 | dominant macular dystrophy | linkage mapping; mapping in a large Greek family | Yang 06a |
|
CRX, CORD2, LCA7; 120970, 204000, 268000, 602225, 613829 |
19q13.32 | dominant cone-rod dystrophy; recessive, dominant and de novo Leber congenital amaurosis; dominant retinitis pigmentosa; protein: cone-rod otx-like photoreceptor homeobox transcription factor [Gene] | linkage mapping, candidate gene; meiotic drive suggested; CRX also activates pineal genes; interacts with NRL; Crx-deficient mice have diminished circadian entrainment; causes 1 to 3% of LCA; 1 bp CRX deletion in Rdy cat with dominant rod-cone dysplasia | Bellingham 97; Evans 94; Evans 95; Freund 97; Freund 98; Furukawa 99; Gregory 94; Hanein 04; Li 98; Lotery 00; Menotti-Raymond 10; Sohocki 98; Swain 97; Swaroop 99 |
|
OPA3, MGA3; 165300, 165500, 258501, 606580 |
19q13.32 | recessive optic atrophy with ataxia and 3-methylglutaconic aciduria; dominant optic atrophy with cataract, ataxia and areflexia; protein: OPA3 protein [Gene] | linkage mapping, candidate gene; Iraqi-Jewish and other families; protein may play a role in mitochondrial processes; ubiquitously expressed, predominantly in skeletal muscle, kidney and brain; also called Costeff optic atrophy syndrome; symptoms related to 3-methylglutaconic aciduria include early-onset optic atrophy, cognitive deficit, extrapyramidal abnormalities, ataxia and spastic paraplegia | Anikster 01; Ayrignac 12; Nystuen 98 |
|
PRPF31, PRP31, RP11; 268000, 600138, 606419 |
19q13.42 | dominant retinitis pigmentosa; protein: pre-mRNA processing factor 31 [Gene] | linkage mapping, candidate gene; incomplete penetrance and bimodal severity result from variable expression of alleles in trans; large deletions in PRPF31, not detectable by sequencing, account for 2.5% of dominant RP; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF6 and PRPF8 (RP13); an intronic SNP in CNOT3 contributes to incomplete expression | Al-Maghtheh 94; Al-Maghtheh 96; McGee 97; Sullivan 06a; Venturini 12; Vithana 98; Vithana 01; Vithana 03 |
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Chromosome 20 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
IDH3B, RP46; 268000, 604526, 612572 |
20p13 | recessive retinitis pigmentosa; protein: NAD(+)-specific isocitrate dehydrogenase 3 beta [Gene] | expression mapping; unique identification based on reduced mRNA expression in lymphoblasts; two families with low or absent expression; isocitrate dehydrogenase catalyzes conversion of isocitrate to α-ketogluterate in the citric acid cycle (Krebs cycle); the Krebs cycle is localized to mitochondria, further confirming the role of mitochondria in retinal diseases; no additional symptoms were observed in the RP patients | Hartong 08 |
|
PANK2, HARP, PKAN; 234200, 606157, 607236 |
20p13 | recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and palladial degeneration); recessive Hallervorden-Spatz syndrome; protein: pantothenate kinase 2 [Gene] | homozygosity mapping, candidate gene; symptoms are highly variable including progressive rigidity, pigmentary retinopathy, iron deposits in the palladium, and neurological disorders; PANK2 mutations account for at least 66% of affected families, with deletions in 4%; the PANK2 gene is ubiquitously expressed and the protein is an essential enzyme in CoA biosynthesis, catalyzing phosphorylation of pantothenate; Hallervorden's name is no longer associate with this syndrome because of his role in eugenics | Ching 02; Hartig 06; Hayflick 03; Houlden 03; Taylor 96; Zhou 01 |
|
JAG1, AGS; 118450, 601920 |
20p12.2 | dominant Alagille syndrome; protein: Jagged protein 1 [Gene] | deletion mapping, candidate gene; multiple affected organs including chorioretinal atrophy and retinal pigment changes; Jagged is the ligand for Notch proteins, involved in cell-cell interactions | Hol 95; Li 97; Oda 97; Oda 97a; Schnittger 89 |
|
MKKS, BBS6; 209900, 236700, 604896 |
20p12.2 | recessive Bardet-Biedl syndrome; protein: McKusick-Kaufman syndrome protein [Gene] | linkage mapping, candidate gene; MKKS mutations also cause McKusick-Kaufman syndrome with multiple congenital and developmental anomalies in Old Order Amish families; protein has sequence similarity to chaperonins; often involved in triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele | Beales 01; Katsanis 00; Katsanis 01; Slavotinek 00; Stone 98a; Stone 00 |
|
KIZ, RP69; 268000, 615757, 615780 |
20p11.23 | recessive retinitis pigmentosa; protein: kizuna centrosomal protein [Gene] | whole-exome sequencing; a homozygous nonsense mutation detected in two families with recessive rod cone dystrophy, one family of North African Sephardic Jewish origin and the other of Spanish ancestry, and compound heterozygous mutations in a third family; KIZ mutations may account for up to 1% of recessive RP patients in this population; the KIZ gene is widely expressed and its product localizes to and stabilizes centrosomes, thus this is an additional ciliopathy | El Shamieh 14 |
|
ABHD12, PHARC; 613599, 612674 |
20p11.21 | recessive syndromic PHARC; recessive Usher syndrome, type 3-like; protein: abhydrolase domain containing protein 12 [Gene] | linkage mapping, candidate gene, targeted NGS; mutations in ABHD12 cause PHARC in multiple families; PHARC is a neurodegenerative disease involving polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract; a homozygous ABHD12 mutation was identified in a Lebanese family with USH3-like findings and cataracts; ABHD12 enzyme hydrolyzes 2-arachidonoyl glycerol, an endocannabinoid lipid transmitter that acts on cannabinoid receptors | Eisenberger 12; Fiskerstrand 10 |
|
KIF3B, RP89; 603754, 618955 |
20q11.21 | dominant retinitis pigmentosa, non-syndromic; dominant retinitis pigmentosa, syndromic; protein: kinesin family member 3B [Gene] | sequencing; one American and one European family with different dominant-acting missense mutations; one family with RP, hepatic fibrosis and polydactyly, the other, multi-generation family, with non-syndromic RP; a homozygous KIF3B missense mutation in Bengal cats causes progressive retinal atrophy; kinesin proteins are involved in chromosome movement and microtubule activity | Cogné 20; Ofri 15 |
|
CEP250; 609689 |
20q11.22 | recessive Usher syndrome, atypical; protein: centrosomal protein 250 kDa [Gene] | homozygosity mapping, whole-exome sequencing; a homozygous nonsense mutation in CEP250 accompanied by a heterozygous or homozygous nonsense mutation in PCARE causes atypical Usher syndrome in a consanguineous Iranian Jewish family; the PCARE mutation increases severity in an additive fashion; CEP250 mutations alone may or may not be sufficient to cause Usher syndrome; the CEP250 gene product is a member of a family of proteins involved in centrosomal activity | Khateb 14 |
|
PRPF6, RP60; 268000, 613979, 613983 |
20q13.33 | dominant retinits pigmentosa; protein: pre-mRNA processing factor 6 [Gene] | candidate gene; missense mutation in one dominant RP family among 188 screened; mutation affects PRPF6 protein localization in patient-derived cells; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF8 (RP13) and PRP31 (RP11) | Tanackovic 11 |
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Chromosome 21 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
USH1E; 276900, 602097 |
21q21 | recessive Usher syndrome, type 1 [Gene] | linkage mapping; no specific gene identified by 2023 | Chäib 97 |
|
C21orf2; 603191 |
21q22.3 | recessive cone-rod dystrophy; protein: chromosome 21 open reading frame 2 [Gene] | homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in an isolated Saudi CORD patient and a novel homozygous splice-site mutation in a second isolated Saudi CORD patient; protein of unknown function | Abu-Safieh 13 |
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Chromosome 22 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
OPA5; 165500, 610708 |
22q12.1-q13.1 | dominant optic atrophy [Gene] | linkage mapping; two French families with phenotypes similar to OPA1 | Barbet 05 |
|
TIMP3, SFD; 136900, 188826 |
22q12.3 | dominant Sorsby's fundus dystrophy; protein: tissue inhibitor of metalloproteinases-3 [Gene] | linkage mapping, candidate gene; model for ARMD; common British mutation; vitamin A reverses night blindness | Felbor 95; Felbor 97; Jacobson 95; Peters 95; Stöhr 95; Weber 94; Weber 94b; Wijesuriya 96 |
|
IFT27, BBS19; 209900, 615870, 615996 |
22q12.3 | recessive Bardet-Biedl syndrome; protein: intraflagellar transport 27 Chlamydomonas homolog [Gene] | homozygosity mapping, candidate gene; homozygosity mapping identified a homozygous missense mutation in IFT27 in a consanguineous Saudi family with two affected siblings; no additional mutations have been reported; a zebrafish model has complex ciliopathy features; the authors conclude that the IFT27 mutation is the cause of disease in this family and assign the symbol "BBS19" to this locus; the IFT27 protein is associated with intraflagellar transport in green algae | Aldahmesh 14 |
| VRD1 | 22q13 | recessive vitreoretinal dystrophy | homozygosity mapping; the disease locus in a Swiss, multiplex family maps to 22q13, a region containing FBLN1, but no mutations were found in FBLN1 | Weigell-Weber 03 |
|
MIEF1; 615497 |
22q13.1 | dominant optic neuropathy, late onset; protein: mitochondrial elongation factor 1 [Gene] | targeted sequencing; heterozygous missense mutations in MIEF1 found in two women with late-onset optic atrophy | Charif 21 |
|
ACO2, ACONM, ICRD, OPA9; 100850, 165500, 614559, 616289 |
22q13.2 | recessive optic atrophy; recessive cerebellar degeneration with optic atrophy; protein: aconitase 2 (mitochondrial) [Gene] | whole-exome sequencing, candidate gene; recessive mutations in ACO2 cause infantile cerebellar degeneration, encephalopathy, spastic paraplegia and/or related neurologic conditions, usually accompanied with optic atrophy and retinal degeneration; in rare cases, compound heterozygous ACO2 mutations cause optic atrophy without other symptoms but with abnormal brain MRI findings; the ACO2 protein is a nuclear-coded mitochondrial protein involved in the tricarboxylic acid (TCA) cycle pathway | Marelli 18; Metodiev 14 |
|
TUBGCP6, MCCRP1; 251270, 610053 |
22q13.33 | recessive microcephaly with chorioretinopathy; protein: tubulin gamma-complex associated protein 6 [Gene] | linkage mapping, whole-exome sequencing; homozygous mutations in TUBGCP6, first observed in an Old Order Amish family, cause complex developmental disorders including microcephalic dwarfism and chorioretinal degeneration; the TUBGCP6 protein plays a key role in centriolar function and is phosphorylated by PLK4, mutations in which cause a similar phenotype | Martin 14; Puffenberger 12 |
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X Chromosome | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
OFD1, RP23; 268000, 300170, 300209, 300424, 300804, 311200 |
Xp22.2 | X-linked Jobert syndrome; orofaciodigital syndrome 1, Simpson-Golabi-Behmel syndrome 2; X-linked retinitis pigmentosa, severe; protein: oral-facial-digital syndrome 1 protein [Gene] | linkage mapping, candidate gene; a frameshift mutation causes Jobert syndrome in a Malaysian family with unaffected carrier females but severely affected males; symptoms include RP, polydactyly, brain and facial abnormalities, development delay and breathing problems; targeted genomic next-generation sequencing also uncovered a deep intronic mutation in a family with severe X-linked RP (the RP23 locus); OFD1 is a centrosomal protein which interacts with other ciliopathy-associated proteins including lebercilin (LCA5) and SDCCAG8 | Coene 09; Hardcastle 00; Webb 12 |
|
RS1, XLRS1; 312700 |
Xp22.13 | X-linked retinoschisis; protein: retinoschisin [Gene] | linkage mapping, candidate gene; retinoschisin contains a large discoidin domain; expression is limited to photoreceptors but protein is secreted into the inner retina | Bergen 93a; Grayson 00; Huopaniemi 97; Retinoschisis 98; Sauer 97; Sieving 90 |
| (- - -) | Xp21-q21 | X-linked retinitis pigmentosa with mental retardation | linkage mapping; may be contiguous gene syndrome including RP2 | Aldred 94 |
|
RP6; 268000, 312612 |
Xp21.3-p21.2 | X-linked retinitis pigmentosa [Gene] | linkage mapping; distinct from RP2 and RP3 | Breuer 00; Musarella 90; Ott 90 |
|
DMD; 310200 |
Xp21.2-p21.1 | X-linked Oregon eye disease (probably); protein: dystrophin [Gene] | candidate gene; exons 20-28 involved in retinal disease | D'Souza 95; Pillers 93; Ray 92 |
|
OPA2; 165500, 311050 |
Xp11.4-p11.2 | X-linked optic atrophy [Gene] | linkage mapping; large Dutch family | Assink 97 |
|
RPGR, CORDX1, RP3; 300029, 304020, 312610 |
Xp11.4 | X-linked retinitis pigmentosa, recessive; X-linked retinitis pigmentosa, dominant; X-linked cone dystrophy 1; X-linked atrophic macular dystrophy, recessive; protein: retinitis pigmentosa GTPase regulator [Gene] | linkage mapping, candidate gene; mutations are found in 70% of RP3 cases, with dominant mutations in ORF15 (a mutation hot spot); same gene affected in XLPRA dog; exceptionally heterogeneous, retina-specific alternate splicing; RPGR mutations account for at least 15% of male sporadic (isolated) RP cases; protein is similar to RCC1, and interacts with IQCB1, PDE6D and RPGRIP1; species differences in subcellular localization; rare association with hearing loss and recurrent infections | Andréasson 97; Ayyagari 02; Bader 03; Branham 12; Buraczynska 97; Fujita 97; Kirschner 99; Linari 99; Mavlyutov 02; Meindl 96; Musarella 90; Ott 90; Pelletier 06; Roepman 96; Roepman 96a; Rozet 02; Vervoort 00; Yang 02; Zeiss 00; Zhang 02; Zito 03 |
|
NYX, CSNB1, CSNB1A, CSNB4; 300278, 310500 |
Xp11.4 | X-linked congenital stationary night blindness; protein: nyctalopin [Gene] | linkage mapping, candidate gene; nyctalopin is an extracellular glycosylphosphatidyl (GPI)-anchored member of the small leucine-rich proteoglycan (SLRP) protein family; expressed in several tissues but more abundant in retina and kidney; NYX mutations are found in a majority of X-linked complete-CSNB patients; NYX mutation found in the original CSNB4 family ('CSNB4' also refers to rhodopsin) | Bech-Hansen 00; Bergen 95; Boycott 98; Gal 89; Hardcastle 97; Musarella 89; Pusch 00 |
|
COD1; 304020 |
same as RPGR | X-linked cone dystrophy 1 | linkage mapping, mutation screening; locus remapped and deletions in ORF15 of RPGR detected | Bartley 89; Bergen 93; Dash-Modi 96; Demirci 02; Hong 94; Meire 94; Seymour 98; Yang 02 |
|
RP15; 300029 |
same as RPGR | X-linked retinitis pigmentosa, dominant | linkage mapping, mutation screening; locus remapped and de novo insertion in ORF15 of RPGR detected; 'RP15' withdrawn | McGuire 95a; Mears 00 |
|
PRD; 312550 |
Xp11.3-p11.23 | X-linked retinal dysplasia, primary [Gene] | linkage mapping; linked to Norrie disease, may be same locus | Ravia 93 |
|
NDP, EVR2; 133780, 300658, 305390, 310600 |
Xp11.3 | X-linked Norrie disease; familial exudative vitreoretinopathy; Coats disease; protein: Norrie disease protein (norrin) [Gene] | linkage mapping, candidate gene; expressed in multiple tissues; some mutations cause FEVR but evidence of genetic heterogeneity; associated with retinopathy of prematurity; somatic mutation causes Coats disease; NDP, FZD4, LRP5 and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis | Berger 92; Berger 92a; Black 99; Chen 92; Chen 93; Chen 93a; Fuchs 94; Fuchs 96; Fullwood 93; Gal 85; Isashiki 95; Meindl 92; Meindl 95; Rehm 97; Schuback 95; Shastry 95; Shastry 97; Shastry 97a; Shastry 97b; Strasberg 95 |
|
AIED, OA2; 300600 |
same as CACNA1F | X-linked Åland Island eye disease [Gene] | linkage mapping; CACNA1F mutations found in AIED-like patients and later in the original Åland Island family | Alitalo 91; Glass 93; Jalkanen 07; Schwartz 91; Wutz 02 |
|
RP2; 268000, 312600 |
Xp11.23 | X-linked retinitis pigmentosa; X-linked retinitis pigmentosa, dominant; protein: retinitis pigmentosa 2 (X-linked) [Gene] | linkage mapping, candidate gene; human cofactor C is involved in beta-tubulin folding; accounts for 10% of XlRP in European and North American families; affected "carrier" females in at least one family; novel protein similar to human cofactor C; the RP2 protein interacts with the ARL3 protein | Bhattacharya 84; Hardcastle 99; Mears 99; Pomares 09; Schwahn 98; Teague 94; Thiselton 96 |
|
CACNA1F, CORDX3, CSNB2, CSNB2A, CSNBX2; 300071, 300110, 300476, 300600, 310500 |
Xp11.23 | X-linked congenital stationary night blindness, incomplete; AIED-like disease; severe congenital stationary night blindness; X-linked progressive cone-rod dystrophy; protein: L-type voltage-gated calcium channel alpha-1 subunit [Gene] | linkage mapping, candidate gene; founder mutation in Mennonites; CACNA1F mutations are found in 60 to 90% of X-linked incomplete-CSNB patients; retina-specific expression with synaptic localization of protein; mutations in AIED-like patients and later found in the original Åland Island family; associated with optic atrophy in a Japanese family; the CORDX3 locus in a Finish family later identified as a CACNA1F mutation | Aldred 92; Bech-Hansen 92; Bech-Hansen 98; Berger 95; Boycott 01; Hope 05; Jalkanen 03; Jalkanen 06; Jalkanen 07; Morgans 01; Nakamura 03; Strom 98; Wutz 02 |
|
PGK1; 300653, 311800 |
Xq21.1 | X-linked retinitis pigmentosa with myopathy; protein: phosphoglycerate kinase [Gene] | candidate gene; one case only - RP is not usually found with PGK deficiency | Tonin 93 |
|
CHM, REP1, TCD; 300390, 303100 |
Xq21.2 | X-linked choroideremia; protein: geranylgeranyl transferase Rab escort protein 1 [Gene] | linkage mapping, candidate gene; ubiquitously expressed protein (REP2 can substitute); attaches isoprenoids to Rab (e.g., Rab 27) proteins | Andres 93; Beaufrère 96; Cremers 90; Nussbaum 85; Seabra 93; van Bokhoven 94; van Bokhoven 94a; van den Hurk 92; van den Hurk 97 |
|
TIMM8A, DDP, DDP2, DFN1; 300356, 304700, 311150 |
Xq22.1 | X-linked optic atrophy with deafness-dystonia syndrome; protein: inner mitochondrial membrane translocase 8 homolog A [Gene] | linkage mapping, candidate gene; symptoms include progressive optic nerve atrophy, nerve deafness and dementia; also known as Mohr-Tranebjaerg or Jensen syndrome; protein involved in transport of metabolites into mitochondria | Jin 96; Koehler 99; Tranebjaerg 95 |
|
PRPS1, ARTS, CMTX5, DFNX1; 300661, 301835, 304500, 311070, 311850 |
Xq22.3 | X-linked neuropathy, optic atrophy, deafness and retinitis pigmentosa; protein: phosphoribosyl pyrophosphate synthetase 1 [Gene] | whole-exome sequencing; loss-of-function or reduced-function mutations in PRPS1 cause a range of variable symptoms in males and carrier females, symptoms often include optic atrophy, retinopathy and/or retinitis pigmentosa; other common findings are progressive peripheral neuropathy, ataxia and hearing loss; named conditions include Charcot-Marie-Tooth disease 5 (CMTX5), Arts syndrome (ARTS), non-syndromic deafness (DFNX1) and hyperuricemia from PRPS1 superactivity; the PRPS1 protein product is involved in de novo and salvage pathways for purine and pyrimidine biosynthesis | Al-Maawali 15; Almoguera 14; de Brouwer 07; Kim 07 |
|
RP24; 268000, 300155 |
Xq26-q27 | X-linked retinitis pigmentosa [Gene] | linkage mapping; single large family; RP2, RP3 and RP15 excluded | Gieser 98 |
|
COD2, CORDX2; 300085 |
Xq27 | X-linked progressive cone dystrophy 2 [Gene] | linkage mapping; no specific gene identified by 2023 | Bergen 97 |
|
RP34; 268000, 300605 |
Xq28-qter | X-linked retinitis pigmentosa [Gene] | linkage mapping; maximum lod score of 2.2 in one family, RP24 excluded | Melamud 06 |
|
BCM, CBBM, COD5; 303700, 300821, 300822 |
Xq28 | X-linked blue cone monochromacy; X-linked cone-rod dystrophy | sequencing; blue-cone monochromacy (BCM) is caused by functional absence of both OPN1LW and OPN1MW proteins, either as a result of deletion or null mutations in each gene or mutations in the red-green locus control element; rare degenerative cone dystrophy, COD5, associated with BCM | Ayyagari 99; Nathans 89 |
|
OPN1LW, CBP, RCP, ROP; 300822, 303900 |
Xq28 | X-linked protanomaly and rare macular dystrophy in blue cone monochromacy (BCM); protein: long-wave (red) sensitive cone opsin 1 [Gene] | candidate gene; polymorphic amino-acid variants cause spectral shift; absence of both OPN1LW and OPN1MW functional proteins, either as a result of deletions, null mutations or mutations in the locus control element, cause blue-cone monochromacy (BCM) | Nathans 86; Nathans 92; Neitz 95 |
|
OPN1MW, CBD, DCB, GCP, GOP; 300821, 303800 |
Xq28 | X-linked deuteranomaly and rare macular dystrophy in blue cone monochromacy (BCM); protein: medium-wave (green) sensitive cone opsin 1 [Gene] | candidate gene; one to five copies 3' to red pigment gene or more complex organization; absence of both OPN1LW and OPN1MW functional proteins, either as a result of deletions, null mutations or mutations in the locus control element, cause blue-cone monochromacy (BCM) | Nathans 86; Nathans 92; Neitz 95; Winderickx 92 |
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Mitochondrion | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
KSS; 530000 |
mitochondrion | mitochondrial Kearns-Sayre syndrome including retinal pigmentary degeneration; protein: several mitochondrial proteins [Gene] | sequencing; multiple large deletions | OMIM 17; Puddu 93; Wallace 99 |
|
LHON; 535000 |
mitochondrion | mitochondrial Leber hereditary optic neuropathy; protein: complex I, III or IV proteins [Gene] | sequencing; three mutations (MTND1-3460, MTND4-11778 and MTND6-14484) account for 95% of European cases and one (11778) for 80% of Japanese cases; penetrance influenced by mtDNA haplotype; uncertain role of rare variants; spontaneous recovery possible | Brown 92; Brown 97; Hofmann 97; Howell 97; Howell 98; Huoponen 93; Mashima 93; Nikoskelainen 96; OMIM 17; Riordan-Eva 95; Torroni 97; Wallace 88 |
|
MT-TL1, DMDF, TRNL1; 520000, 590050 |
mitochondrion | mitochondrial macular pattern dystrophy with type II diabetes and deafness; protein: leucine tRNA 1 (UUA/G), nt 3230-3304 [Gene] | sequencing; one of two mitochondrial leucine tRNAs; often caused by heteroplasmic A3243G mutation; other mutations can cause a similar disease | Bonte 97; Harrison 97; Massin 95; Michaelides 08; van den Ouweland 92 |
|
MT-ATP6, ATP6, NARP; 516060, 551500 |
mitochondrion | mitochondrial retinitis pigmentosa with developmental and neurological abnormalities; Leigh syndrome; Leber hereditary optic neuropathy; protein: complex V ATPase 6 subunit, nt 8527-9207 [Gene] | sequencing; symptoms include developmental delay, neuropathy, ataxia and RP, with or without optic atrophy; RP found primarily with T8993G (Leu156Arg) mutation | Holt 90; Lamminen 95; Santorelli 93; White 99 |
|
MT-TH, TRNH; 590040 |
mitochondrion | mitochondrial pigmentary retinopathy and sensorineural hearing loss; protein: histidine tRNA, nt 12138-12206 [Gene] | sequencing; Italian family with heteroplasmic mutation and variable additional findings; another MTTH mutation is associated with cardiomyopathy | Crimi 03 |
|
MT-TS2, TRNS2; 500004, 590085 |
mitochondrion | mitochondrial retinitis pigmentosa with progressive sensorineural hearing loss; protein: serine tRNA 2 (AGU/C), nt 12207-12265 [Gene] | linkage mapping, sequencing; one of two mitochondrial serine tRNAs; Irish family; previously mapped to 9q as RP21 | Mansergh 99 |
|
MT-TP, TRNP; 590075 |
mitochondrion | mitochondrial retinitis pigmentosa with deafness and neurological abnormalities; protein: proline tRNA, nt 15955-16023 [Gene] | sequencing; isolated patient with a hetroplasmic C to A substitution at nucleotide 15975; other MT-TP mutations associated Parkinson disease and/or myopathy | Da Pozzo 09 |
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Supported by The Foundation Fighting Blindness, The George Gund Foundation, and The Hermann Eye Fund.
©1996-2024, Lori S. Sullivan, PhD & Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas