A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness

Audiol Neurootol. 2004 Jan-Feb;9(1):47-50. doi: 10.1159/000074186.

Abstract

Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We report the identification of a novel Cx26 point mutation (439 G-->A) linked to familial, autosomal recessive, sensorineural hearing loss. This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Case-Control Studies
  • Child
  • Connexin 26
  • Connexins / genetics*
  • Female
  • Genes, Recessive
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Point Mutation / genetics*
  • Polymorphism, Restriction Fragment Length

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26