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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Van Camp, G., Coucke, P.J., Akita, J., Fransen, E., Abe, S., De Leenheer, E.M., Huygen, P.L., Cremers, C.W., Usami, S. Hum. Mutat. (2002) [Pubmed]
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