Mitochondrial DNA alterations involving position 961 are not sufficient to explain sensorineural hearing loss

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Duman D., Arıcan S. T., Yılmaz S., Kupka S., Pandya A., Akar M. N., ...Daha Fazla

JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, cilt.1, sa.3, ss.110-116, 2005 (SCI-Expanded)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1 Sayı: 3
  • Basım Tarihi: 2005
  • Dergi Adı: JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.110-116
  • Ankara Üniversitesi Adresli: Evet

Özet

OBJECTIVE: We present the results of screening for the m.961delTinsC(n) and m.961T>G alterations among children with SNHL in Turkey.

PATIENTS AND METHODS: We screened 210 unrelated Turkish children with congenital or prelingual-onset sensorineural nonsyndromic hearing loss for the mtDNA m.961delTinsC(n) and m.961T>G alterations, which are related to hearing loss.

RESULTS: One child with m.961delTinsC(n) and 2 children with m.961T>G were identified. Autosomal recessive (rather than mitochondrial) inheritance of the hearing impairment, with multiple affected sibs with normal hearing parents, was the most likely explanation in 2 of these families. There was only one affected child in the third family. Other autosomal recessive deafness genes or loci were not causative DNA changes in one family with the m.961delTinsC(n) mutation.

CONCLUSION: Because hearing subjects carry both changes, the two changes alone are not sufficient to cause deafness, although involvement of nuclear modifiers is also possible.