A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):127-31. doi: 10.1016/j.ijporl.2008.09.019. Epub 2008 Nov 5.

Abstract

Nonsyndromic sensorineural hearing impairment is inherited in a predominantly autosomal recessive manner in up to 70% of cases. The gene more often involved is GJB2, encoding the gap junction protein Connexin 26. We report here a novel missense mutation in the GJB2 gene found in a Tunisian family. A homozygous change C/G at nucleotide 263 was detected in the 4-year-old girl of this family, affected by congenital moderate hearing loss. This transversion leads to the replacement of a highly conserved alanine with glycine at codon 88 (A88G). The consanguineous parents of the child are healthy carriers of the mutation.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Connexin 26
  • Connexins / genetics*
  • Consanguinity
  • Female
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Inheritance Patterns / genetics*
  • Mutation, Missense / genetics*
  • Pedigree
  • Tunisia

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26