Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting
نویسندگان
چکیده
منابع مشابه
Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis
Hearing loss is a common birth defect worldwide. The GJB2, SLC26A4, MT-RNR1 and MT-TS1 genes have been reported as major pathogenic genes in nonsyndromic hearing loss. Early genetic screening is recommended to minimize the incidence of hearing loss. We hereby described a multicolor melting curve analysis (MMCA)-based assay for simultaneous detection of 12 prevalent nonsyndromic hearing loss-rel...
متن کاملMutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province
Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene. The aim of this study was to evaluate mutations in exon 10 of SLC26A4 gene in individuals with hearing loss in Guilan province. Materials and Methods: In this descriptive cross-sect...
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 کاملAutosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
متن کاملDistinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Mutations of the human SLC26A4/PDS gene constitute the most common cause of syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment. We screened for SLC26A4 mutations among Chinese and U.S. subjects with hea...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2011
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2011.03.003