[Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene]

Vestn Otorinolaringol. 2009:(2):17-9.
[Article in Russian]

Abstract

This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing having hereditary etiology and attributable to autosomal-recessive 35 delG mutation in locus DFNB1 (13q.11-q12) of GJB2 (connexin 26) gene.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cochlear Implantation / methods*
  • Connexin 26
  • Connexins / genetics*
  • DNA / genetics*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease*
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / surgery*
  • Humans
  • Male
  • Mutation*
  • Pedigree

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26
  • DNA