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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
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, Volume 79, No. 3, Year 2006
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Description
"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. © 2006 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Wu, Huimin
United Kingdom, London
Ucl Institute of Ophthalmology
Cowing, Jill A.
United Kingdom, London
Ucl Institute of Ophthalmology
Michaelides, Michel
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Wilkie, Susan E.
United Kingdom, London
Ucl Institute of Ophthalmology
Jeffery, Glen
United Kingdom, London
Ucl Institute of Ophthalmology
Jenkins, Sharon A.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Mester, Viktória
United Arab Emirates, Abu Dhabi
Al Mafraq Hospital
Bird, Alan C.
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Robson, Anthony George
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Holder, Graham E.
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Moore, Anthony Tony
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Hunt, David M.
United Kingdom, London
Ucl Institute of Ophthalmology
Webster, Andrew R.
United Kingdom, London
Ucl Institute of Ophthalmology
United Kingdom, London
Moorfields Eye Hospital Nhs Foundation Trust
Statistics
Citations: 119
Authors: 13
Affiliations: 3
Identifiers
Doi:
10.1086/507568
ISSN:
00029297
Research Areas
Cancer
Disability
Genetics And Genomics