Skip to main content
Article thumbnail
Location of Repository

Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans

By Huimin Wu, Jill A. Cowing, Michel Michaelides, Susan E. Wilkie, Glen Jeffery, Sharon A. Jenkins, Viktoria Mester, Alan C. Bird, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, David M. Hunt and Andrew R. Webster

Abstract

“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 region, KCNV2, showed a homozygous nonsense mutation. Mutations were also found in 17 alleles of 10 other unrelated families with the same disorder. In situ hybridization demonstrated KCNV2 expression in human rod and cone photoreceptors. The precise function of KCNV2 in human photoreceptors remains to be determined, although this work suggests that mutations might perturb or abrogate IKX, the potassium current within vertebrate photoreceptor inner segments, which has been shown to set their resting potential and voltage response

Topics: Report
Publisher: The American Society of Human Genetics
OAI identifier: oai:pubmedcentral.nih.gov:1559534
Provided by: PubMed Central
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • http://www.pubmedcentral.nih.g... (external link)
  • Suggested articles


    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.