MYO7A mutation screening in Usher syndrome type I patients from diverse origins
نویسندگان
چکیده
منابع مشابه
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I
PURPOSE PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of stereocilia bundles and in the function or preservation of photoreceptor cells. Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). The purpose of this work was to perform PCDH15 mutation screening to identify ...
متن کاملIdentification of a novel MYO7A mutation in Usher syndrome type 1
Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. In view of the high phenotypic and genetic heterogeneity in USH, performing genetic screening with traditional methods is impractical. In the present study, we carried out targeted next-generation sequencing (NGS) to uncover the underlying gene in an USH family (2 USH patients and 15 unaff...
متن کاملMyosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutati...
متن کاملNovel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2
Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screening in the genes associated with inherited retinal diseases. Using targeted next-generation sequen...
متن کاملNovel mutations in MYO7A and USH2A in Usher syndrome.
PURPOSE Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndr...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2006
ISSN: 1468-6244
DOI: 10.1136/jmg.2006.045377