Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
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 کاملDisease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
PURPOSE To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. METHODS Patients with MYO7A-USH1B (n=17; ages 5-61) were studied with optical coherence tomography. Retinal laminae across horizontal and vertical meridians were measured. Colocalized visual sensitivity was measured with automated perimetry to enable compa...
متن کاملThe genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).
Usher syndrome type Ib is a recessive autosomal disorder manifested by congenital deafness, vestibular dysfunction, and progressive retinal degeneration. Mutations in the human myosin VIIa gene (MYO7A) have been reported to cause Usher type Ib. Here we report the genomic organization of MYO7A. An STS content map was determined to discover the YAC clones that would cover the critical region for ...
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 کاملMYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
PURPOSE To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). METHODS Thirty-six Italian patients with a diagnosis of USH were recruited. They received a standard ophthalmologic examination, visual field testing, optical coherence tomography (OCT) scan, and electrophysiological tests. Fluorescein angiography ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2006
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9404