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Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases

  • Katalin Komlósi
  • Anita Maász
  • Péter Kisfali
  • Kinga Hadzsiev
  • Judit Bene
  • Béla I Melegh
  • Béla Melegh
  • Mária Ablonczy
  • Krisztina Németh
  • György Fekete
Case Report
Part of the JIMD Reports book series (JIMD, volume 9)

Abstract

The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNASer(UCN) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, with special attention to phenotypic variations and haplogroup background. A Hungarian family, the fourth family reported in the literature, is presented, in which analysis of three generations with bilateral isolated hearing loss revealed the m.7510T>C tRNASer(UCN) mutation in homoplasmic form in the affected members. Haplogroup analysis verified an unnamed subgroup of mitochondrial haplogroup H. Previously reported Spanish and North American Caucasian families belong to different subgroups of haplogroup H. Analyzing our biobank of Hungarian patients with sensorineural hearing loss, we did not detect this mutation in any other patient, nor was it found in Caucasian haplogroup H control samples. Comparing the cases reported so far, there is interfamilial variablity in the age of onset, accompanying symptoms, and haplogroup background. Our case adds further genetic evidence for the pathogenicity of the m.7510T>C mutation and underlines the need to include full mtDNA sequencing in the screening for unexplained hearing loss.

Notes

Acknowledgments

We are grateful to Anna Erdélyi and Edit Papp for their skilled technical assistance in the mitochondrial DNA analysis. This work was supported by the Grants OTKA T 73430 and ETT 2009 243–07. We are grateful to the family for their cooperation.

All authors declare no conflict of interest relating to the work in the manuscript.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Katalin Komlósi
    • 1
  • Anita Maász
    • 1
  • Péter Kisfali
    • 1
  • Kinga Hadzsiev
    • 1
  • Judit Bene
    • 1
  • Béla I Melegh
    • 1
  • Béla Melegh
    • 1
  • Mária Ablonczy
    • 2
  • Krisztina Németh
    • 2
  • György Fekete
    • 2
  1. 1.Department of Medical GeneticsUniversity of PécsPécsHungary
  2. 2.2nd Department of PediatricsSemmelweis UniversityBudapestHungary

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