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

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

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.

Original languageEnglish
Title of host publicationJIMD Reports
PublisherSpringer
Pages105-111
Number of pages7
DOIs
Publication statusPublished - Jan 1 2013

Publication series

NameJIMD Reports
Volume9
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Fingerprint Dive into the research topics of 'Non-syndromic hearing impairment in a hungarian family with the m.7510t>C mutation of mitochondrial tRNA<sup>Ser(UCN)</sup> and Review of Published Cases'. Together they form a unique fingerprint.

  • Cite this