Article
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Journal of medical genetics - 1 Aug 2001
Van Laer L, Coucke P, Mueller R F, Caethoven G, Flothmann K, Prasad S D, Chamberlin G P, Houseman M, Taylor G R, Van de Heyning C M, Fransen E, Rowland J, Cucci R A, Smith R J, Van Camp G
Abstract excerpt
Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational hot spot in GJB2,...
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