Mutation Analysis Identifies<i>GUCY2D</i>as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

Abstract

GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. Haplotype analysis indicates that in most cases these mutations arise independently. Thus, codon 838 is likely to be a mutation hotspot in the GUCY2D gene.