What's New in Genes and Loci Causing Retinal Diseases
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Total entries = 14. (Last updated October 1, 2009)
New and Updated Retinal Disease Genes and Loci - 2008 | ||||
|---|---|---|---|---|
| Symbols; OMIM Numbers |
Location | Diseases; Protein |
How Identified; Comments |
References |
|
CNNM4, ACDP4; 607805 |
2q11.2 | recessive Jalili syndrome; protein: cyclin M4 [Entrez] | linkage mapping, candidate gene; Jalili syndrome involves cone-rod dystrophy and amelogenesis imperfecta (abnormal teeth); more than 7 independently-ascertained families; 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 | Jalili 89; Parry 09; Polok 09 |
|
SNRNP200, ASCC3L1, BRR2, HECIC2; 601664 |
2q11.2 | dominant retinitis pigmentosa; protein: small nuclear ribonucleoprotein 200kDa (U5) [Entrez] | linkage mapping, candidate gene; a Chinese family; different from the RP33 Chinese family but probably the same gene; 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 | Li 09 |
|
TLR3; 603029 |
4q35.1 | age-related macular degeneration, complex etiology; protein: toll-like receptor 3 [Entrez] | 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 |
|
EYS, RP25, SPAM; 602772 |
6q12 | recessive retinitis pigmentosa; protein: eyes shut/spacemaker (Drosophila) homolog [Entrez] | homozygosity mapping, linkage mapping, candidate gene; Spanish and Pakistani families; accounts for 10 to 20% of recessive RP in Spain 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; Barragán 08; Collin 08; Khaliq 99; Ruiz 98 |
|
KLHL7, RP42; 611119 |
7p15.3 | dominant retinitis pigmentosa; protein: kelch-like 7 protein (Drosophila) [Entrez] | 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 |
|
ADAM9, CORD9, MCMP, MDC9; 602713 |
8p11.23 | recessive cone-rod dystrophy; protein: ADAM metallopeptidase domain 9 (meltrin gamma) protein [Entrez] | 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 |
|
INPP5E, CORS1, JBTS1; 213300, 610156 |
9q34.3 | recessive Joubert syndrome; recessive MORM syndrome; protein: inositol polyphosphate-5-phosphatase E [Entrez] | 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 |
|
RBP3, IRBP; 180290 |
10q11.22 | recessive retinitis pigmentosa; protein: retinol binding protein 3, interstitial [Entrez] | 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 |
|
PDE6C, PDEA2; 600827 |
10q23.33 | recessive cone dystrophy, early onset; recessive complete and incomplete achromatopsia; protein: cGMP-specific cone phosphodiesterase 6C alpha prime protein [Entrez] | 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 |
| PDZD7, PDZK7 | 10q24.31 | recessive non-syndromic deafness; protein: PDZ domain 7 containing protein [Entrez] | 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; gene interacts with DFNB31 and USH1C proteins | Schneider 09 |
| TMEM126A | 11q14.1 | recessive non-syndromic optic atrophy; protein: transmembrane protein 126A [Entrez] | 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 |
|
SPATA7, HSD3; 604232, 609868 |
14q31.3 | recessive LCA; recessive RP, juvenile; protein: spermatogenesis associated protein 7 [Entrez] | homozygosity mapping, sequencing; Saudi Arabian, Dutch and other families including original LCA3 family; SPATA7 protein found in spermatocytes and multiple retinal layers; not a ciliary protein | Wang 09; Zhang 03 |
|
IDH3B; 604526 |
20p13 | recessive retinitis pigmentosa; protein: NAD(+)-specific isocitrate dehydrogenase 3 beta [Entrez] | 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 |
|
MT-TP, TRNP; 590075 |
mitochondrion | retinitis pigmentosa with deafness and neurological abnormalities; protein: proline tRNA, nt 15955-16023 [Entrez] | 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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©1996-2009, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas