The study of KCNE2 gene mutations in Iranian LQTS patients
Publish Year: 1398
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
BSIPD01_047
تاریخ نمایه سازی: 5 بهمن 1398
Abstract:
Introduction: Long QT syndrome is a type of ventricular arrhythmia that is commonly along with syncope, seizure or sudden cardiac death due to torsades de pointes. KCNE2 mutations cause MiRP1 dysfunctions, this protein as a beta subunit of hERG channel is important to create and passing IKr currentMaterials & Methods: we investigated the KCNE2 gene mutations in 20 Iranian LQTS patients referred to Shahid Rajaie cardiovascular hospital. DNA extraction from peripheral blood was performed, KCNE2 gene was amplified and direct sequencing was performed to identify possible mutationsResults: In this study, the number of affected males was higher (about 2 times). The symptoms seen in patients were syncope, notched T-wave and history of sudden cardiac death and LQTS in the family. heterozygous mutation at c.22A> G (p.Thr8Ala)was found in a three-year-old boy which reduces KCNE2-hERG channel activity by 15% and its pathogenicity has been reported as disease causing based on Mutation Taster predictionConclusion & discussion: KCNE2 gene variants have high incidence as the causal variants in Iranian patients with LQTS type 6 Also, it is suggested to investigate the pathogenicity of KCNE2 and other KCNE gene family in Iranian patients for genetic testing
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Authors
Rambod norouzi
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Radin Norouzi
Department of Biology, Faculty of Basic Science, Kharazmi University, Tehran, Iran
Nejat Mahdieh
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Tahereh Foroutan
۴.Department of Biology, Faculty of Basic Science, Kharazmi University, Tehran, Iran
Mohammad Dalili
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Mohammad Rafie Khorgami
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran