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Human Molecular Genetics, Vol 7, 1179-1184, Copyright © 1998 by Oxford University Press

ARTICLES

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

RE Kelsell, K Gregory-Evans, AM Payne, I Perrault, J Kaplan, RB Yang, DL Garbers, AC Bird, AT Moore and DM Hunt
Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.

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.
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