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Journals / The Anatolian Journal of Cardiology / 2016 / Cilt: 16 - Sayı: 3

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

Marzi ASADI
Roger FOO
Zahurul Alam BHUİYAN
Mohammad Reza SAMİENASAB
Ahmad Reza SALEHİ
Shahab SHAHRZAD
Rasoul SALEHI
Pages
170–174
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: SCN5A encodes alpha subunit of the major sodium channel (Nav1.5) in human cardiac tissue.
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Key Findings & Data: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.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

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Cite This Article

ASADI, M., FOO, R., BHUİYAN, Z. A., SAMİENASAB, M. R., SALEHİ, A. R., SHAHRZAD, S., SALEHI, R. (2016). Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias. The Anatolian Journal of Cardiology, Cilt: 16 - Sayı: 3, 170–174. https://ajindex.com/articles/365473

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