Novel compound heterozygous mutations in <i>SLC26A4</i> gene in a Chinese family with enlarged vestibular aqueduct
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چکیده
منابع مشابه
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
The following information is missing from the Competing Interests section: " Xi Lin owns stocks in Otogenetics Corporation, which may be a source of potential conflict of interest for materials presented in this paper. This does not alter our adherence to PLOS ONE policies on sharing data and materials. " Reference 1. article distributed under the terms of the Creative Commons Attribution Licen...
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 ...
متن کاملNovel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162) with USH1. Combining the ...
متن کاملNovel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome...
متن کاملVestibular pathology in children with enlarged vestibular aqueduct.
OBJECTIVES/HYPOTHESIS To establish the prevalence of abnormal vestibular test findings in children with enlarged vestibular aqueduct (EVA) and determine if these findings correlate with clinical symptoms, radiographic findings (EVA size and laterality), audiometric findings, and genetic testing in these patients. STUDY DESIGN Prospective cohort. METHODS Patients 3 to 12 years of age with he...
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ژورنال
عنوان ژورنال: BioScience Trends
سال: 2018
ISSN: 1881-7815,1881-7823
DOI: 10.5582/bst.2018.01260