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Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

1998; Oxford University Press; Volume: 7; Issue: 7 Linguagem: Inglês

10.1093/hmg/7.7.1179

1460-2083

Rosemary E. Kelsell, Kevin Gregory-Evans, Annette Payne, Isabelle Perrault, Josseline Kaplan, Ruey‐Bing Yang, David L. Garbers, Alan C. Bird, Anthony T. Moore, David M. Hunt,

melanin and skin pigmentation

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal-specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone-rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.