What's New in Genes and Loci Causing Retinal Diseases
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Total entries = 7. (Last updated April 26, 2008)
New and Updated Retinal Disease Genes and Loci - 2008 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
KCNJ13, SVD; 193230, 603208 |
2q37.1 | dominant vitreoretinal degeneration, snowflake; protein: inwardly-rectifying potassium channel subfamily J member 13 [Entrez] | linkage mapping, candidate gene; linkage in an American family of European origin; COL4A3 excluded; disease involves developmental and progressive abnormalities affecting multiple tissues of the eye; symptoms include early-onset cataracts, retinal deposits and retinal detachment; 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 |
| CC2D2A | 4p15.33 | recessive retinitis pigmentosa and mental retardation; protein: coiled-coil and C2 containing 2A protein [Entrez] | 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 | Noor 08 |
|
LCA5; 604537, 611408 |
6q14.1 | recessive Leber congenital amaurosis; protein: lebercilin [Entrez] | 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; although LCA5 mutations might, theoretically, cause complex ciliopathies, null mutations affect the retina only | den Hollander 07; Dharmaraj 00 |
|
TOPORS, LUN, P53BP3, RP31; 609507, 609923 |
9p21.1 | dominant retinitis pigmentosa; protein: topoisomerase I binding arginine/serine rich protein [Entrez] | 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; protein of unknown function is widely expressed and may be involved in transcription, splicing and/or cell-cycle regulation | Chakarova 07; Papaioannou 05 |
|
NR2E3, ESCS, PNR; 268100, 604485 |
15q23 | recessive enhanced S-cone syndrome; recessive retinitis pigmentosa in Portuguese Crypto Jews; Goldmann-Favre syndrome; dominant retinits pigmentosa; protein: nuclear receptor subfamily 2 group E3 [Entrez] | 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 rd7 mouse; recurrent Gly56Arg mutation causes dominant RP | Coppieters 07; Gerber 00; Gire 07; Haider 00; Haider 01; Kobayashi 99; Kaplan 99; Sharon 03 |
|
RPGRIP1L, JBTS7, KIAA1005, MKS5, NPHP8; 610937, 611560, 611561 |
16q12.2 | recessive Joubert syndrome; recesssive Meckel syndrome; protein: RP GTPase regulator-interacting 1 like protein [Entrez] | 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 and the protein interacts with NPHP4 protein and several other ciliary proteins | Arts 07; Delous 07 |
|
C3, ARMD9, ASP; 120700, 603075, 611378 |
19p13.3 | age-related macular degeneration, complex etiology; protein: complement component 3 [Entrez] | 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 |
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©1996-2008, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas