Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey

Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., Fitoz S., ...Daha Fazla

EUROPEAN JOURNAL OF PEDIATRICS, cilt.162, sa.3, ss.154-158, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 162 Sayı: 3
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1007/s00431-002-1129-z
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.154-158
  • Anahtar Kelimeler: aminoglycoside toxicity, cerebral infarct, deafness, mitochondrial mutations, Turkish population, RIBOSOMAL-RNA GENE, GJB2 MUTATIONS, MITOCHONDRIAL, PREVALENCE, FAMILIES
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Considerable differences on the frequencies of the mitochondrial 12S rRNA A1555Gand tRNA(Ser(UCN)) A7445G mutations have been reported in different populations. Our screening of 168 patients coming from independent Turkish families with prelingual sensorineural non-syndromic deafness revealed three deaf children with A1555G (1.8%) but no examples of A7445G. One proband with the mitochondrial A1555G mutation has also evidence for right parietal infarct on a brain imaging study, for which common thrombotic mutations were found to be negative. Conclusion: This study shows that the mitochondrial A1555G mutation is among the significant causes of prelingual non-syndromic deafness in the Turkish population.