期刊
AUDIOLOGY AND NEURO-OTOLOGY
卷 11, 期 3, 页码 157-164出版社
KARGER
DOI: 10.1159/000091199
关键词
dominant hearing loss; missense mutation; molecular modelling; motor head domain; myosin VIIA
资金
- Telethon [TGM06S01, TGM03P12] Funding Source: Medline
We ascertained a large Italian family with an autosomal dominant form of non-syndromic sensorineural hearing loss with vestibular involvement. A genome-wide scan found linkage to locus DFNA11. Sequencing of the MYO7A gene in the linked region identified a new missense mutation resulting in an Ala230Val change in the motor domain of the myosin VIIA. Myosin VIIA has already been implicated in several forms of deafness, but this is the third mutation causing a dominant form of deafness, located in the myosin VIIA motor domain in a region never involved in hearing loss until now. A modelled protein structure of myosin VII motor domain provides evidence for a significant functional effect of this missense mutation. Copyright (C) 2006 S. Karger AG, Basel.
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