High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness

Genet Test. 2001 Summer;5(2):147-8. doi: 10.1089/109065701753145637.

Abstract

We report an analysis of 102 unrelated Polish patients with profound prelingual deafness for mutations in the GJB2 gene (OMIM #220290). Mutations were found in 41/102 (40%) subjects. Among mutated alleles, 35delG was prevalent and present in 88%. In nine alleles, different mutations were found: M34T, Q47X, R184P, and 313del14 (found in 6 patients). The results prove mutations in the GJB2 gene are responsible for much hereditary nonsyndromic deafness in Poland, with a strong prevalence of the 35delG mutation. We have also found a high carrier frequency (1/50) for the 35delG mutation in the Polish population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Alleles
  • Amino Acid Substitution
  • Child
  • Connexin 26
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Deafness / epidemiology
  • Deafness / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Mutation*
  • Mutation, Missense
  • Poland / epidemiology
  • Prevalence
  • Sequence Deletion

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26

Associated data

  • OMIM/220290