Table 1.
Autosomal and X-Linked Genes Known to Cause Dominant Retinitis Pigmentosa
| Symbol | Protein | Location | Prevalence | Population | References |
|---|---|---|---|---|---|
| CA4 (RP17) | Carbonic anhydrase 4 | 17q23.2 | - | 2 | |
| CRX | Cone-rod homeobox transcription factor | 19q13.32 | 2/206 (1%) 0/148 (0%) |
American Spanish |
3, 4 |
| FSCN2 | Fascin 2 | 17q25.3 | 4/120 (3%) | Japanese | 5, 6 |
| GUCA1B | Guanylate cyclase activating protein 1B | 6p21.1 | 0/200 (0%) 3/63 (5%) |
British Japanese |
7, 8 |
| IMPDH1 (RP10) | Inosine monophosphate dehydrogenase 1 | 7q32.1 | 2/60 (3%) 7/183 (4%) 2/96 (2%) 6/190 (2%) |
American American Japanese North American |
9-11* |
| NRL | Neural retina leucine zipper | 14q11.2 | 4/189 (2%) 3/200 (2%) 0/96 (0%) 1/148 (1%) |
American British Japanese Spanish |
4, 12-14† |
| PRPF3 (RP18) | Pre-mRNA processing factor 3 | 1q21.2 | 1/96 (1%) 1/150 (1%) |
Japanese Spanish |
15, 16† |
| PRPF8 (RP13) | Pre-mRNA splicing factor C8 | 17p13.3 | 4/190 (2%) 0/96 (0%) 5/150 (3%) |
American Japanese Spanish |
16, 17†,‡ |
| PRPF31 (RP11) | Pre-mRNA splicing factor 31 | 19q13.42 | 4/96 (4%) 3/150 (2%) |
Japanese Spanish |
16‡ |
| RDS | Peripherin 2 | 6p21.2 | 17/206 (8%) 5/96 (5%) 2/148 (1%) |
American Japanese Spanish |
3, 4, 18† |
| RHO | Rhodopsin | 3q22.1 | 53/206 (26%) 2/96 (2%) 19/90 (20%) 29/148 (20%) |
American Japanese North American Spanish |
3, 4, 19, 20† |
| ROM1 | Rod outer membrane protein 1 | 11q12.3 | 0/173 (0%) 2/224 (1%) |
American North American |
21-23 |
| RP1 | RP1 protein | 8q12.1 | 8/206 (4%) 21/266 (8%) 1/96 (1%) 5/148 (3%) |
American British Japanese Spanish |
3, 4, 24-26† |
| RP9 (PAP1) | Pim-1 associated protein | 7p14.3 | - | 27 | |
| RPGR | Retinitis pigmentosa GTPase regulator | Xp11.4 | - | 28, 29 |
Gene symbols are those approved by the HUGO Nomenclature Committee (http://www.gene.ucl.ac.uk/nomenclature/) followed by the alternate symbol, if any, in parenthesis. Genes are listed alphabetically by symbol here and in the text. Alternate symbols are not used further, except to distinguish the pre-mRNA splicing proteins. Map locations are based on the assembled human genome (May 2004 build) using the UCSC Genome Browser (http://genome.ucsc.edu/). Affected/total (percent) is unrelated adRP probands or families, with probable or definite pathogenic mutations, based on surveys of more than 50 individuals, as can best be deduced from the publication. Note: additional prevalence values are reported by Ramesar et al.30 and Ziviello et al.31
Wada Y, et al. IOVS 2003; 44: ARVO E-Abstract 2306.
Wada Y et al. IOVS 2004; 45: ARVO E-Abstract 2456.
De Erkenez AC et al. IOVS 2002;43: ARVO E-Abstract 791.