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. 2002 Jul;20(1):15-9.
doi: 10.1002/humu.10096.

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

Guy Van Camp  1 , 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
Affiliations

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

Guy Van Camp et al. Hum Mutat. 2002 Jul.

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.

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