A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Raquel Rabionet, Estela Morales-Peralta, Núria Lópes-Bigas, Maria Lourdes Arbonés, Xavier Estivill

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.

Original languageEnglish
Pages (from-to)443-445
Number of pages3
JournalGenetics and Molecular Biology
Volume29
Issue number3
DOIs
Publication statusPublished - 1 Jan 2006

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Keywords

  • Connexin 26
  • DFNA3
  • GJB2
  • Hearing impairment

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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