title: Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences; Isfahan-Iran. r_salehi@med.mui.ac.ir.
authors.forename: Marzi
authors.initials: M
authors.lastname: Asadi
authors.forename: Roger
authors.initials: R
authors.lastname: Foo
authors.forename: Zahurul Alam
authors.initials: ZA
authors.lastname: Bhuiyan
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Samienasab
authors.forename: Ahmad Reza
authors.initials: AR
authors.lastname: Salehi
authors.forename: Shahab
authors.initials: S
authors.lastname: Shahrzad
authors.forename: Rasoul
authors.initials: R
authors.lastname: Salehi
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000503:physiopathology; D053840:Brugada Syndrome / Q000235:genetics; D003430:Cross-Sectional Studies; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007492:Iran; D008133:Long QT Syndrome / Q000235:genetics; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D012804:Sick Sinus Syndrome / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human