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A Novel Compound Heterozygous Mutation (35delG, 363delC) in the Connexin 26 Gene Causes Non-Syndromic Autosomal Recessive Hearing Loss
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نویسنده
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Onsori Habib ,Rahmati Mohammad ,Fazli Davood
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منبع
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acta medica iranica - 2014 - دوره : 52 - شماره : 8 - صفحه:638 -640
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چکیده
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Mutations in the connexin 26 (cx26) gene are a common cause of hereditary hearing loss in different populations. in the present study, an iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. dna studies were performed for the cx26 gene by pcr and sequencing methods. we describe a novel compound heterozygous mutation (35delg, 363delc) in the cx26 gene that is strongly associated with congenital non-syndromic hearing loss (nshl).
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کلیدواژه
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Connexin 26; Hearing loss; Novel mutation; Case report
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آدرس
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islamic azad university, Department of Cell and Molecular Biology, ایران, tabriz university of medical sciences, Drug Applied Research Center, Faculty of Medicine, Department of Clinical Biochemistry, ایران, payame noor university, Department of Physiology, ایران
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Authors
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