Connexin 26 mutation 35delG: prevalence of carriers in various regions in France

Int J Pediatr Otorhinolaryngol. 2005 Sep;69(9):1187-90. doi: 10.1016/j.ijporl.2005.03.009.

Abstract

Objective: Mutation 35delG in the connexin 26 gene is the main cause of recessive deafness in Europe. The prevalence of carriers varies, with a mean value proportion of 1/30 in Mediterranean countries. The aim of this study is to determinate the percentage of carriers in several regions of the Mediterranean coast in France.

Methods: This study has been carried out on the genomic DNAs out of a total of 1584 healthy subjects, originating from five French towns or regions, genotyped by Taqman assays.

Results: the approximate carrier proportions of the 35delG mutation are 1/50 in Perpignan, 1/65 in Montpellier, 1/66 in Toulon, 1/53 in Grasse. This carrier proportion is 1/31 for the region of Marseilles, a value near the maximal value already obtained in France for Corsica.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Connexin 26
  • Connexins / genetics*
  • Deafness / epidemiology*
  • Deafness / genetics*
  • Female
  • France / epidemiology
  • Gene Deletion
  • Gene Frequency
  • Genes, Recessive
  • Genotype
  • Heterozygote*
  • Humans
  • Male
  • Mutation*
  • Prevalence

Substances

  • Connexins
  • Connexin 26