Open AccessAnalysis of SCN 5A Gene Variants in East Slovak Patients with Cardiomyopathy
Author(s) -
Priganc Mariana,
Zigová Michaela,
Boroňová Iveta,
Bernasovská Jarmila,
Dojčáková Dana,
Szabadosová Viktória,
Mydlárová Blaščáková Marta,
Tóthová Iveta,
Kmec Ján,
Bernasovský Ivan
Publication year - 2017
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22037
Subject(s) - missense mutation , dilated cardiomyopathy , exon , genetics , hypertrophic cardiomyopathy , gene , mutation , gene mutation , cardiomyopathy , sanger sequencing , medicine , biology , heart failure
Objective Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN 5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN 5A gene lead to decreased Na+ current and ion unbalance. The SCN 5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN 5A gene mutations in cardiomyopathy is not fully elucidated. Methods Three selected exons (12, 20, and 21) of the SCN 5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM. Results The mutation screening of three selected exons of SCN 5A gene in the cohort of 27 DCM , 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN 5A gene, were potentially damaging and disease‐causing variants. Conclusion Data from this study demonstrate that SCN 5A gene variants have important role in the etiopathogenesis of dilated and HCM.