Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
نویسندگان
چکیده
منابع مشابه
Mouse tales from Kresge: the deafness mouse.
Mouse models for human deafness have not only proven instrumental in the identification of genes for hereditary hearing loss, but are excellent model systems in which to examine gene function as well as the resulting pathophysiology. One mouse model for human nonsyndromic deafness is the deafness (dn) mouse, a spontaneous mutation in the curly-tail (ct) stock. The dn gene is on mouse Chromosome...
متن کاملبررسی اطلاع‌دهندگی مارکر D9S1876 واقع در ناحیه ژنTMC1 در جمعیت ایرانی
Background and Objective: TMC1 gene mutations are known as the most common causes of autosomal recessive non-syndromic hearing loss (ARNSHL) in different populations. According to large size of the TMC1 gene and the large number of identified mutations in this gene, application of polymorphic markers is suggested for carrier detection and prenatal diagnosis in families. In this study, informati...
متن کاملCommon founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
Background Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) found...
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Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
متن کاملMechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.
Inner ear hair cells convert the mechanical stimuli of sound, gravity, and head movement into electrical signals. This mechanotransduction process is initiated by opening of cation channels near the tips of hair cell stereocilia. Since the identity of these ion channels is unknown, and mutations in the gene encoding transmembrane channel-like 1 (TMC1) cause hearing loss without vestibular dysfu...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2002
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng842