Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Title: Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Volume: 15 Issue: 13

Author(s): Anita Maasz, Katalin Komlosi, Kinga Hadzsiev, Zsolt Szabo, Patrick J. Willems, Imre Gerlinger, Gyorgy Kosztolanyi, Karoly Mehes and Bela Melegh

Affiliation:

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.

Cite this article as:

Maasz Anita, Komlosi Katalin, Hadzsiev Kinga, Szabo Zsolt, Willems J. Patrick, Gerlinger Imre, Kosztolanyi Gyorgy, Mehes Karoly and Melegh Bela, Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation, Current Medicinal Chemistry 2008; 15 (13) . https://dx.doi.org/10.2174/092986708784534910