Article
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human mutation - 1 Jan 1998
Scott D A, Kraft M L, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy C R, Rosengren S S, Markham A F, Mueller R F, Lench N J, Van Camp G, Smith R J, Sheffield V C
Abstract excerpt
Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 locus or in which the ARNSHL phenotype cosegregated with markers from chromosome 13q12. Cx26 mutations were found in...
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