GJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey


SILAN F. , GÜÇLÜ O. , KADIOGLU L. E. , SILAN C. , ATIK S., ULUDAĞ A. , ...More

JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, vol.7, no.3, pp.361-371, 2011 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 2011
  • Title of Journal : JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY
  • Page Numbers: pp.361-371

Abstract

Objective: 35delG mutation in the GJB2 (gap junction protein beta 2, connexin 26) gene is the most frequent mutation in patients with non-syndromic autosomal recessive deafness. The A1555G mutation in the mitochondrial 12S rRNA is another important genetic alteration, and is associated with aminoglycoside-induced deafness. The aim of this study was to explore the etiology of deafness and the prevalence of both mutations in the study cases.