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

✍ Scribed by 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

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 135 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10096

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✦ Synopsis

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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