Channelpedia

PubMed 12112653


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ4 , Kv7.4



Title: A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.

Authors: Guy Van Camp, Paul J Coucke, Jiro Akita, Erik Fransen, Satoko Abe, Els M R De Leenheer, Patrick L M Huygen, Cor W R J Cremers, Shin-ichi Usami

Journal, date & volume: Hum. Mutat., 2002 Jul , 20, 15-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12112653


Abstract
Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). Here we describe two additional families originating from Europe and Japan with a KCNQ4 missense mutation (W276S) that was previously found in one European family. We compared the disease-associated haplotype of the three W276S-bearing families using closely linked microsatellite markers and intragenic single nucleotide polymorphisms. Differences between the haplotypes were found, excluding a single founder mutation for the families. Therefore, the W276S mutation has occurred three times independently, and most likely represents a hot spot for mutation in the KCNQ4 gene.