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:: Volume 20, Issue 1 (April_May 2016) ::
J Qazvin Univ Med Sci 2016, 20(1): 74-70 Back to browse issues page
A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene
H. Onsori *
Assistant Professor of Cellular and Molecular Biology, Islamic Azad University, Marand Branch, Marand, Iran , onsoribiomol@marandiau.ac.ir
Abstract:   (1611 Views)

  Hearing loss is one of the most common sensorineural disorders that occur in 1:1000. Mutation in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 is the most important cause of congenital hearing loss. The aim of this study was to determine the hearing loss causative mutations in the GJB2 gene in a 37 year-old woman with non-syndromic congenital hearing loss. A compound heterozygous mutation (35delG/del120E) was found in the GJB2 gene. With regards to the variety of mutations in the GJB2 gene, screening the causative mutations of hearing loss is recommended for subjects referred to genetics counseling centers before marriage and pregnancy.

Keywords: Nonsyndromic Deafness, Connexin 26, Mutation
Full-Text [PDF 156 kb]   (662 Downloads)    
Type of Study: case report | Subject: Genetics
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Onsori H. A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene. J Qazvin Univ Med Sci. 2016; 20 (1) :74-70
URL: http://journal.qums.ac.ir/article-1-1959-en.html
Volume 20, Issue 1 (April_May 2016) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی قزوین The Journal of Qazvin University of Medical Sciences
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