Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1
نویسندگان
چکیده
منابع مشابه
Identification 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...
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چکیده ندارد.
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
PURPOSE This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. METHODS Haplotype analysis for all known USH1 loci was performed in each family. In families for which haplotype analysis was inconclusive, we performed genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array. For mutation analysis, speci...
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 compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1
PURPOSE To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). METHODS An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2010
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2010.115