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

SILAN, FATMA; GÜÇLÜ, OĞUZ; KADIOGLU, Laliz; SILAN, COŞKUN; ATIK, Sinem; ULUDAĞ, AHMET; DEMIRAY, Asli; ÖZDEMİR, ÖZTÜRK; Derekoy, FEVZİ

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, sa.3, ss.361-371, 2011 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 7 Sayı: 3
Basım Tarihi: 2011
Dergi Adı: JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.361-371
Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

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.