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 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 2011
  • Journal Name: JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.361-371
  • Çanakkale Onsekiz Mart University Affiliated: Yes

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.