What's New in Genes and Loci Causing Retinal Diseases
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Total entries = 23 (last updated April 16, 2024).
New and Updated Retinal Disease Genes and Loci | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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