Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene

Mustafa Tekin, T. Duman, G. Boǧoçlu, A. Incesulu, Ş Cin, N. Akar

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.

Original languageEnglish (US)
Pages (from-to)379-386
Number of pages8
JournalGenetic Counseling
Volume14
Issue number4
StatePublished - Dec 1 2003
Externally publishedYes

Keywords

  • Connexin 26
  • Deafness
  • Genotype-phenotype
  • L90P mutation
  • Pseudodominant inheritance

ASJC Scopus subject areas

  • Genetics(clinical)

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