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

@article{Camp2002AMH,
  title={A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.},
  author={Guy Van Camp and Paul J Coucke and Jiro Akita and Erik Frans{\'e}n and Satoko Abe and Els M R De Leenheer and Patrick L. M. Huygen and Cor Wrj Cremers and Shin-Ichi Usami},
  journal={Human mutation},
  year={2002},
  volume={20 1},
  pages={
          15-9
        }
}
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… CONTINUE READING
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