Article
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
Investigative ophthalmology & visual science - 1 Nov 2008
Kitiratschky Veronique B D, Wilke Robert, Renner Agnes B, Kellner Ulrich, Vadalà Maria, Birch David G, Wissinger Bernd, Zrenner Eberhart, Kohl Susanne
Abstract excerpt
PURPOSE: Heterozygous mutations in the GUCY2D gene, which encodes the membrane-bound retinal guanylyl cyclase-1 protein (RetGC-1), have been shown to cause autosomal dominant inherited cone degeneration and cone-rod degeneration (adCD, adCRD). The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders. METHODS: Mutation analysis was performed...
Topics
- Codon
- DNA
- DNA Mutational Analysis
- Disease Progression
- Electroretinography
- Female
- Genetic Predisposition to Disease
- Guanylate Cyclase
- Haplotypes
- Humans
- Male
- Mutation
- Pedigree