Mutation Analysis of Slc26a4 in Mainland Chinese Patients with Enlarged Vestibular Aqueduct
نویسندگان
چکیده
منابع مشابه
A 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...
متن کاملA 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 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 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 کاملFunctional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria
The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger seq...
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ژورنال
عنوان ژورنال: Otolaryngology–Head and Neck Surgery
سال: 2009
ISSN: 0194-5998,1097-6817
DOI: 10.1016/j.otohns.2009.07.004