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. , ...Daha Fazla

JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, cilt.7, ss.361-371, 2011 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 7 Konu: 3
  • Basım Tarihi: 2011
  • Dergi Adı: JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY
  • Sayfa Sayıları: ss.361-371

Özet

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.