What's New in Genes and Loci Causing Retinal Diseases

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Listed in Chromosomal Order.

Total entries = 20 (last updated February 5, 2018).

New and Updated Retinal Disease Genes and Loci

OMIM Numbers
Location Diseases;
How Identified;
1p36.33 recessive retinitis pigmentosa; protein: sterile alpha motif domain containing 11 protein [Gene] homozygosity mapping, whole-exome sequencing; comment pending Corton 16
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
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
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
SPP2, SPP24;
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
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
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
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
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
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
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
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
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
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
12q15 recessive Leber congenital amaurosis; protein: chaperonin containing TCP1 (T-complex polypeptide 1) subunit 2 [Gene] whole exome sequencing; comment pending Minegishi 16
12q24.11 recesessive cone-rod dystrophy; recessive spectrum of ciliopathies including retinal dystrophy; protein: homolog of chlamydomous intraflagelar transport protein 81 [Gene] whole-exome sequencing; comment pending Dharmat 17; Duran 16; Perrault 15
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
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
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; comment pending Agrawal 17; Arno 16
268000, 616432, 617433
19p13.2 recessive retinitis pigmentosa; protein: Rho/Rac guanine nucleotide exchange factor 18 [Gene] whole-genome and whole-exome sequencing; comment pending Arno 17

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