Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

A mutation in the gene for connexin 26 may be responsible for some cases of hereditary deafness. Connexin 26 is a protein in the inner ear involved in cell communication. Researchers tested three Ashkenazi Jewish families for mutations in the connexin 26 gene, which is called GJB2. Two mutations were identified and 5% of the family members had one of the mutations. This is much higher than the rate in the general population.