Hutchin, TP, Navarro-Coy, NC orcid.org/0000-0002-1516-0571, Van Camp, G et al. (6 more authors) (2001) Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. European Journal of Human Genetics, 9 (5). pp. 385-387. ISSN 1018-4813
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 tRNASer(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.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Keywords: | hearing loss; mtDNA mutation; transfer RNASer(UCN); haplotype |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Institute of Rheumatology & Musculoskeletal Medicine (LIRMM) (Leeds) > Clinical Musculoskeletal Medicine (LIRMM) (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 06 Sep 2019 14:37 |
Last Modified: | 06 Sep 2019 14:37 |
Status: | Published |
Publisher: | Springer Nature |
Identification Number: | 10.1038/sj.ejhg.5200640 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:129821 |