Table 1.
LCA genes, their encoded protein product functions and reported mutational frequencies among patients with LCA
| Gene | Function | Mutation frequency (%) | ||
|---|---|---|---|---|
| MIM#610142 | CEP290 | Centrosome protein 290 kDa | Ciliary protein | 21 |
| MIM#600179 | GUCY2D | Photoreceptor-specific guanylate cyclase | Signal transduction | 12 |
| MIM#604210 | CRB1 | Crumbs homolog 1 | Photoreceptor polarity determination | 10 |
| MIM#180069 | RPE65 | Retinal pigment epithelium 65 kDa protein | Vitamin A metabolism | 6 |
| MIM#604392 | AIPL1 | Aryl hydrocarbon receptor-interacting protein like 1 | Chaperone protein | 5 |
| MIM#605446 | RPGRIP1 | Retinitis pigmentosa GTPase regulator interacting protein 1 | Ciliary protein | 4 |
| MIM#608830 | RDH 12 | Retinal dehydrogenase 12 | Vitamin A metabolism | 3 |
| MIM#611408 | LCA5 | Lebercilin | Microtubule transport | 2 |
| MIM#602225 | CRX | Photoreceptor-specific homeobox gene | Photoreceptor differentiation control | 1 |
| MIM#602280 | TULP1 | Tubby-like gene 1 | Vesicular trafficking | <1 |
| MIM#604863 | LRAT | Lecithin retinol acyltransferase | Vitamin A metabolism | <1 |
| MIM#609868 | SPATA7 | Spermatogenesis-associated protein 7 | Unclear | <1 |
| MIM#146690 | IMPDH1 | Inosine monophosphate dehydrogenase 1 | Purine synthesis | <1 |
| MIM#610612 | RD3 | Retinal degeneration 3 | Unclear | <1 |
Literature reports based on the following studies: den Hollander et al. (2006, 2008), Dharmaraj et al. (2000), Hanein et al. (2004), Lotery et al. (2000) and Yzer et al. (2006)