Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3
نویسندگان
چکیده
منابع مشابه
Unconventional myosins and the genetics of hearing loss.
Mutations of the unconventional myosins genes encoding myosin VI, myosin VIIA and myosin XV cause hearing loss and thus these motor proteins perform fundamental functions in the auditory system. A null mutation in myosin VI in the congenitally deaf Snell's waltzer mice (Myo6(sv)) results in fusion of stereocilia and subsequent progressive loss of hair cells, beginning soon after birth, thus rei...
متن کاملNovel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).
F amilial hypertrophic cardiomyopathy (FHC) is typically characterised by left ventricular hypertrophy, diastolic dysfunction, and hypercontractility, and is often associated with disabling symptoms, arrhythmias, and sudden death. FHC shows both non-allelic and allelic genetic heterogeneity, and results from any one of more than 100 mutations in genes encoding sarcomeric proteins. Identified ge...
متن کاملThe roles of unconventional myosins in hearing and deafness.
The proper expression and function of several unconventional myosins are necessary for inner-ear function. Mutations in MYO7A and MYO15 cause deafness in humans, and mice. Whereas mutations in Myo6 cause inner-ear abnormalities in mice, as yet no human deafness has been found to the result of mutations in MYO6. In the mammalian inner ear there are at least nine different unconventional myosin i...
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Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain defici...
متن کاملStudy of six mutations in the gjb2 gene in Cuban patients with nonsyndromic sensorineural deafness
Deafness is a partial or total hearing loss that can appear at any ages and with different degrees of severity. About 50% of hearing disorders have a genetic origin, and among them, the nonsyndromic sensorineural deafness represents 70% of the cases. Out of these, the 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness has not been characterized enough at mo...
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ژورنال
عنوان ژورنال: Science
سال: 1998
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.280.5368.1447