Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

TitleMultiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
Publication TypeJournal Article
Year of Publication2001
AuthorsHutchin, TP, Navarro-Coy, NC, Van Camp, G, Tiranti, V, Zeviani, M, Schuelke, M, Jaksch, M, Newton, V, Mueller, RF
JournalEur J Hum Genet
Volume9
Issue5
Pagination385-7
Date Published2001 May
ISSN1018-4813
KeywordsDemography, DNA, Mitochondrial, Europe, Haplotypes, Hearing Loss, Sensorineural, Humans, Mutation, RNA, Transfer, Ser, Syndrome
Abstract

Several mtDNA mutations have been reported in families with both syndromic and non-syndromic hearing loss. One such mutation is the heteroplasmic 7472insC in the tRNA(Ser(UCN)) gene which has been found in six families, all from Western Europe. However, it was not clear if this distribution was due to a common founder effect or chance sampling of several unrelated families, the 7472insC mutation having occurred multiple times. Haplotype analysis of all six families supports the latter notion. This confirms the pathogenicity of the 7472insC mutation and suggests it may exist in other populations where it may prove to be a small but significant cause of hearing loss, particularly when neurological symptoms are also present.

DOI10.1038/sj.ejhg.5200640
Alternate JournalEur. J. Hum. Genet.
Citation Key10.1038/sj.ejhg.5200640
PubMed ID11378827
Grant ListG6 / / Action on Hearing Loss / United Kingdom