Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

Neuroreport. 1999 Jun 23;10(9):1853-7. doi: 10.1097/00001756-199906230-00010.


Since the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C-->A) and Gly45Glu (134G-->A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Amino Acid Substitution*
  • Codon, Terminator
  • Connexin 26
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Ethnicity / genetics
  • Family Health
  • Female
  • Frameshift Mutation*
  • Gene Deletion
  • Genes, Recessive
  • Humans
  • Japan
  • Male
  • Molecular Sequence Data
  • Pedigree


  • Codon, Terminator
  • Connexins
  • GJB2 protein, human
  • Connexin 26