Identification of mutations in the Connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

D. A. Scott, M. L. Kraft, R. Carmi, A. Ramesh, K. Elbedour, Y. Yairi, C. R. Srikumari Srisailapathy, S. S. Rosengren, A. F. Markham, R. F. Mueller, N. J. Lench, G. Van Camp, R. J.H. Smith, V. C. Sheffield

Research output: Contribution to journalArticlepeer-review

212 Scopus citations


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 six of the seven families and included two previously described mutations (W24X and W77X) and two novel Cx26 mutations: a single base pair deletion of nucleotide 35 resulting in a frameshift and a C-to-T substitution at nucleotide 370 resulting in a premature stop codon (Q 124X). We have developed and optimized allele- specific PCR primers for each of the four mutations to rapidly determine cartier and noncarrier status within families. We also have developed a single stranded conformational polymorphism (SSCP) assay which covers the entire Cx26 coding region. This assay can be used to screen individuals with nonsyndromic hearing loss for mutations in the CX26 gene.

Original languageEnglish
Pages (from-to)387-394
Number of pages8
JournalHuman Mutation
Issue number5
StatePublished - 1 Jan 1998


  • Autosomal recessive nonsyndromic hearing loss
  • Connexin 26
  • DFNB1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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