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

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Abstract

Considerable differences on the frequencies of the mitochondrial 12S rRNA A1555G and tRNASer(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.

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Acknowledgements

We are grateful to Drs. Arti Pandya and Walter Nance from Virginia Commonwealth University for their unconditional support. This work was supported by the Ankara University Scientific Research Projects (2001-08090076) and by the Turkish Academy of Sciences, in the framework of the Young Scientist Award Program (MT/TÜBA-GEBiP/2001-2-19).

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Authors and Affiliations

  1. Division of Pediatric Molecular Pathology and Genetics, Ankara University School of Medicine, Dikimevi, 06100, Ankara, Turkey

    M. Tekin, T. Duman, G. Boğoçlu, E. Yılmaz & N. Akar

  2. Dept. of ENT, Ankara Social Security Hospital, Ankara, Turkey

    A. İncesulu

  3. Dept. of Pediatrics, Suleyman Demirel University School of Medicine, Isparta, Turkey

    E. Çomak & İ. İlhan

  4. Dept. of Radiodiagnostics, Ankara University School of Medicine, Dikimevi, 06100, Ankara, Turkey

    S. Fitoz

  5. Birlik Mah 8. Cadde No 8/3, Çankaya, 06610, Ankara, Turkey

    M. Tekin

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  1. M. Tekin
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Correspondence to M. Tekin.

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Tekin, M., Duman, T., Boğoçlu, G. et al. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr 162, 154–158 (2003). https://doi.org/10.1007/s00431-002-1129-z

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  • DOI: https://doi.org/10.1007/s00431-002-1129-z

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