| First Author | Bareil C | Year | 2001 |
| Journal | Hum Genet | Volume | 108 |
| Issue | 4 | Pages | 328-34 |
| PubMed ID | 11379879 | Mgi Jnum | J:69360 |
| Mgi Id | MGI:1934491 | Doi | 10.1007/s004390100496 |
| Citation | Bareil C, et al. (2001) Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet 108(4):328-34 |
| abstractText | Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases leading to blindness. By performing full genome linkage analysis in a consanguineous French family affected with severe autosomal recessive RP, we have excluded linkage to known loci involved in RP and mapped a novel locus to chromosome 16q13-q21 (Zmax=2.83 at theta=0 at the D16S3089 locus). Two candidate genes KIFC3 and CNGB1 mapping to this critical interval have been screened for mutations. The CNGB1 gene, which encodes the beta-subunit of the rod cGMP-gated channel, is mutated in the family presented in this study. |
