文章基本信息

标题：Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
本地全文：下载
作者：Seyed Hamid Reza Abtahi ; Ali Malekzadeh ; Saeed Soheilipour 等
期刊名称：International Journal of Pediatrics
印刷版ISSN：2345-5047
电子版ISSN：2345-5055
出版年度：2019
卷号：7
期号：2
页码：9053-9060
DOI：10.22038/ijp.2018.34154.3017
出版社：Mashhad University of Medical Sciences
摘要：BackgroundNon-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6mutations in NSHL cases.Materials and MethodsThis cross-sectional study was implemented from Jan. 2015 to Sep. 2017 at Alzahra Hospital (Isfahan, Iran).46 patients afflicted with NSHL were recognized and recruited by physicians. Heparinized blood was collected and DNA of each participant was extracted. Genetic analysis of GJB2 and GJB6 genes was performed using PCR and GAP-PCR methods respectively.Results: 35delG mutation had the highest prevalence with allelic frequency of 6.12%. The allelic frequencies of 35delG, and delE120 were 6(6.12%), and 3(3.06%), respectively. Allelic frequency of W77R, Y65H, G160, and R127H was 2(2.04%) for each of them. In addition, 2 patients were heterozygous for p.V153I rare polymorphism (2.04%).ConclusionOverall, the present study indicated that 35delG mutation could be considered as the foremost causative factor of NHCL. GJB2mutations were highly prevalent among NSHL cases (23.9%). As a result, the mutation analysis of this gene could be appropriately used for prevention and early diagnosis of NSHL.
其他摘要：Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This cross-sectional study was implemented from Jan. 2015 to Sep. 2017 at Alzahra Hospital (Isfahan, Iran).46 patients afflicted with NSHL were recognized and recruited by physicians. Heparinized blood was collected and DNA of each participant was extracted. Genetic analysis of GJB2 and GJB6 genes was performed using PCR and GAP-PCR methods respectively. Results: 35delG mutation had the highest prevalence with allelic frequency of 6.12%. The allelic frequencies of 35delG, and delE120 were 6(6.12%), and 3(3.06%), respectively. Allelic frequency of W77R, Y65H, G160, and R127H was 2(2.04%) for each of them. In addition, 2 patients were heterozygous for p.V153I rare polymorphism (2.04%). Conclusion Overall, the present study indicated that 35delG mutation could be considered as the foremost causative factor of NHCL. GJB2 mutations were highly prevalent among NSHL cases (23.9%). As a result, the mutation analysis of this gene could be appropriately used for prevention and early diagnosis of NSHL.
关键词：Hearing Loss; GJB2; GJB6; Mutation
其他关键词：Hearing Loss; GJB2; GJB6; Mutation