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- Title
Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.
- Authors
Maász, Anita; Komlósi, Katalin; Hadzsiev, Kinga; Szabó, Zsolt; Willems, Patrick J; Gerlinger, Imre; Kosztolányi, György; Méhes, Károly; Melegh, Béla
- Abstract
A number of nuclear and mitochondrial mutations have been implicated in non-syndromic hearing loss. Among them, various mutations of mitochondrial Ser(UCN)-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 Ser(UCN)-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.
- Publication
Current medicinal chemistry, 2008, Vol 15, Issue 13, p1257
- ISSN
0929-8673
- Publication type
Journal Article
- DOI
10.2174/092986708784534910