Connexin 26 mutations

Mutations in the connexin 26 gene (CX26) on chromosome 13
have been found in severe autosomal recessive congenital
deafness and may account for up to 50% of cases. One specific
mutation, 30delG accounts for over half of the mutations
detected. The carrier frequency for CX26 mutations in the
general population is around 1 in 35. Mutation analysis in
affected children enables carrier detection in relatives, early
diagnosis in subsequent siblings and prenatal diagnosis if
requested.