What's New in Genes and Loci Causing Retinal Diseases

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Listed in Chromosomal Order.

Total entries = 9 (last updated January 21, 2021).

New and Updated Retinal Disease Genes and Loci

OMIM Numbers
Location Diseases;
How Identified;
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
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 18
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
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
POC5, C5orf37;
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
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
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
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
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

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