Article
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics - 1 Jul 1999
Coucke P J, Van Hauwe P, Kelley P M, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink R J, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt W T, Smith R J, Cremers C W, Van de Heyning P, Willems P J, Smith S D, Van Camp G
Abstract excerpt
We have previously found linkage to chromosome 1p34 in five large families with autosomal dominant non-syndromic hearing impairment (DFNA2). In all five families, the connexin31 gene ( GJB3 ), located at 1p34 and responsible for non-syndromic autosomal dominant hearing loss in two small Chinese families, has been excluded as the responsible gene. Recently, a fourth member of the KCNQ branch of the K+channel...
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