SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
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چکیده
منابع مشابه
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
OBJECTIVES We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL. METHODS We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 contr...
متن کاملSubgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.
OBJECTIVES/HYPOTHESIS To investigate possible association of hearing loss and SLC26A4 mutations with the subgroups of enlarged vestibular aqueduct (EVA) morphology in Japanese subjects with hearing loss. STUDY DESIGN Retrospective multicenter study. METHODS Forty-seven subjects who had vestibular aqueduct with midpoint diameter >1 mm by computed tomography of the temporal bone were enrolled...
متن کاملA novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.
OBJECTIVES To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. DESIGN Validation of the mutation by its exclusion in more than 300 individuals...
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...
متن کاملA Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. Th...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2006
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201611