Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation

Anita Maász, Katalin Komlósi, Kinga Hadzsiev, Zsolt Szabó, Patrick J. Willems, Imre Gerlinger, György Kosztolányi, Károly Méhes, Béla Melegh

Research output: Contribution to journalReview article

18 Citations (Scopus)

Abstract

A number of nuclear and mitochondrial mutations have been implicated in non-syndromic hearing loss. Among them, various mutations of mitochondrial SerUCN-tRNA and 12S rRNA genes have been found to be associated with deafness; the A7445G mitochondrial DNA (mtDNA) in this group is unique, simultaneously affecting two different mitochondrial genes, encoding the SerUCN-tRNA and the first subunit of cytochrome oxidase. Besides the hearing loss, it is mainly associated with palmoplantar keratoderma, though; different phenotypic associations have been reported. The current paper reviews the available PubMed reports on the A7445G mtDNA mutation, with special attention to the phenotypic variations. Further, a Hungarian family with the A7445G mutation is reported, in which analysis of both the affected and the non-affected members revealed the mutation in both homo- and heteroplasmic forms, independently of the hearing status of the subjects, a phenomenon previously not reported in other pedigrees. The female lineage represented a rare variant of the U4b haplogroup.

Original languageEnglish
Pages (from-to)1257-1262
Number of pages6
JournalCurrent medicinal chemistry
Volume15
Issue number13
DOIs
Publication statusPublished - Jun 1 2008

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ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Pharmacology
  • Drug Discovery
  • Organic Chemistry

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