A novel dominant missense mutation - D179N - In the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

P. Primignani, P. Castorina, F. Sironi, C. Curcio, U. Ambrosetti, Domenico A. Coviello

Research output: Contribution to journalArticle

Abstract

Mutations of the GJB2 gene, encoding Connexin 26, are the most common cause of hereditary congenital hearing loss in many countries, and account for up to 50% of cases of autosomal-recessive nonsyndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal-dominant form of non-syndromic deafness. We report on a family from southern Italy in whom dominant, non-syndromic, post-lingual hearing loss is associated with a novel missense mutation in the GJB2 gene. Direct sequencing of the gene showed a heterozygous G→A transition at nucleotide 535, resulting in an aspartic acid to asparagine amino acid substitution at codon 179 (D179N). This mutation occurred in the second extracellular domain (EC2), which would seem to be very important for connexon-connexon interaction.

Original languageEnglish
Pages (from-to)516-521
Number of pages6
JournalClinical Genetics
Volume63
Issue number6
DOIs
Publication statusPublished - Jun 1 2003

    Fingerprint

Keywords

  • Connexin 26
  • D179N
  • Deafness
  • Dominant inheritance
  • GJB2 mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this