Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
Details
State: Public
Version: Final published version
License: CC BY-NC-SA 4.0
Serval ID
serval:BIB_4D79D6A819CA
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
Journal
Anatolian journal of cardiology
ISSN
2149-2271 (Electronic)
ISSN-L
2149-2263
Publication state
Published
Issued date
03/2016
Peer-reviewed
Oui
Volume
16
Number
3
Pages
170-174
Language
english
Notes
Publication types: Journal Article ; Observational Study
Publication Status: ppublish
Publication Status: ppublish
Abstract
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.
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.
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.
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.
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.
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.
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.
Keywords
Adult, Arrhythmias, Cardiac/genetics, Arrhythmias, Cardiac/physiopathology, Brugada Syndrome/genetics, Cross-Sectional Studies, Electrocardiography, European Continental Ancestry Group/genetics, Female, Genetic Predisposition to Disease/genetics, Humans, Iran, Long QT Syndrome/genetics, Male, NAV1.5 Voltage-Gated Sodium Channel/genetics, Pedigree, Sick Sinus Syndrome/genetics
Pubmed
Web of science
Open Access
Yes
Create date
01/03/2018 18:16
Last modification date
27/09/2021 11:15
Usage data
