1. A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
- Author
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Van Camp G, Coucke PJ, Akita J, Fransen E, Abe S, De Leenheer EM, Huygen PL, Cremers CW, and Usami S
- Subjects
- DNA chemistry, DNA genetics, DNA Mutational Analysis, Family Health, Female, Genes, Dominant, Haplotypes, Humans, Japan, KCNQ Potassium Channels, Male, Microsatellite Repeats, Mutation, Mutation, Missense, Pedigree, Hearing Loss, Sensorineural genetics, Potassium Channels genetics, Potassium Channels, Voltage-Gated
- 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., (Copyright 2002 Wiley-Liss, Inc.)
- Published
- 2002
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