A mutational hot spot in theKCNQ4 gene responsible for autosomal dominant hearing impairment
- 27 June 2002
- journal article
- Published by Hindawi Limited in Human Mutation
- Vol. 20 (1) , 15-19
- https://doi.org/10.1002/humu.10096
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.Keywords
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