Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene
نویسندگان
چکیده
منابع مشابه
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All M...
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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Usher syndrome is a deaf-blindness disorder. One of the subtypes, Usher 1B, is caused by loss of function of the gene encoding the unconventional myosin, MYO7A. A variety of different viral-based delivery approaches have been tested for retinal gene therapy to prevent the blindness of Usher 1B, and a clinical trial based on one of these approaches has begun. This review evaluates the different ...
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 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...
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ژورنال
عنوان ژورنال: Eye
سال: 2019
ISSN: 0950-222X,1476-5454
DOI: 10.1038/s41433-019-0536-6