Article
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
American journal of human genetics - 1 Sept 2006
Wu Huimin, Cowing Jill A, Michaelides Michel, Wilkie Susan E, Jeffery Glen, Jenkins Sharon A, Mester Viktoria, Bird Alan C, Robson Anthony G, Holder Graham E, Moore Anthony T, Hunt David M, Webster Andrew R
Abstract excerpt
"Cone dystrophy with supernormal rod electroretinogram (ERG)" is an autosomal recessive disorder that causes lifelong visual loss combined with a supernormal ERG response to a bright flash of light. We have linked the disorder to a 0.98-cM (1.5-Mb) region on chromosome 9p24, flanked by rs1112534 and rs1074449, using homozygosity mapping in one large consanguineous pedigree. Analysis of one gene within this...
Topics
- Chromosomes, Human, Pair 9
- Codon, Nonsense
- Electroretinography
- Female