Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias

Autor: Marzi Asadi, Zahurul A. Bhuiyan, Ahmad Reza Salehi, Mohammad Reza Samienasab, Rasoul Salehi, Roger Foo, Shahab Shahrzad
Rok vydání: 2015
Předmět:
Adult
Male
Long QT syndrome
Nonsense mutation
genetic analysis
Iran
NAV1.5 Voltage-Gated Sodium Channel
Bioinformatics
White People
Sick sinus syndrome
Electrocardiography
medicine
Humans
Genetic Predisposition to Disease
cardiovascular diseases
SCN5A
BrS
Brugada Syndrome
Original Investigation
Brugada syndrome
Sick Sinus Syndrome
Genetics
familial arrhythmias
medicine.diagnostic_test
business.industry
Arrhythmias
Cardiac
medicine.disease
SSS
Pedigree
Long QT Syndrome
Cross-Sectional Studies
Arrhythmias
Cardiac/genetics
Arrhythmias
Cardiac/physiopathology
Brugada Syndrome/genetics
European Continental Ancestry Group/genetics
Female
Genetic Predisposition to Disease/genetics
Long QT Syndrome/genetics
NAV1.5 Voltage-Gated Sodium Channel/genetics
Sick Sinus Syndrome/genetics
Mutation (genetic algorithm)
LQTS
Cardiology and Cardiovascular Medicine
business
Zdroj: Anatolian journal of cardiology, vol. 16, no. 3, pp. 170-174
Anatolian Journal of Cardiology
ISSN: 2149-2271
2149-2263
DOI: 10.5152/akd.2015.6060
Popis: Objective: SCN5A encodes alpha subunit of the major sodium channel (Nav1.5) in human cardiac tissue. Malfunction of this cardiac sodium channel is associated with a variety of cardiac arrhythmias and myocardial inherited diseases. Methods: Fifty-three members from three families each diagnosed with long-QT syndrome type 3 (LQTS3), Brugada syndrome (BrS), or sick sinus syndrome (SSS) were included in this observational, cross-sectional study. In this study, we analyzed the sequences of coding region of the SCN5A gene. Results: Eleven members of the LQTS family (39%) showed p.Gln1507-Lys1508-Pro1509del mutation, 8 of BrS family (50%) showed p.Arg222Ter nonsense mutation, and 5 of 9 SSS family members (55%) showed a novel p.Met1498Arg mutation in the SCN5A gene. Conclusion: p.Gln1507-Lys1508-Pro1509del mutation, p.Arg222Ter nonsense mutation, and p.Met1498Arg in LQTS, BrS, and SSS, respectively, are reported for the first time in the Iranian population. Information regarding underlying genetic defects would be necessary for verifying certain clinically diagnosed arrhythmia types, carrier screening in affected families, and more precise therapy of the patients are required. (Anatol J Cardiol 2016; 16: 170-4)
Databáze: OpenAIRE
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