OBJECTIVE: Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A 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 SCN5A gene mutations in cardiomyopathy is not fully elucidated. METHODS: Three selected exons (12, 20, and 21) of the SCN5A 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 SCN5A 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 SCN5A gene, were potentially damaging and disease-causing variants. CONCLUSION: Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.
OBJECTIVE: Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A 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 SCN5A gene mutations in cardiomyopathy is not fully elucidated. METHODS: Three selected exons (12, 20, and 21) of the SCN5A 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 SCN5A 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 SCN5A gene, were potentially damaging and disease-causing variants. CONCLUSION: Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.
Authors: Paolo Spirito; Camillo Autore; Francesco Formisano; Gabriele Egidy Assenza; Elena Biagini; Tammy S Haas; Sergio Bongioanni; Christopher Semsarian; Emmanuela Devoto; Beatrice Musumeci; Francesco Lai; Laura Yeates; Maria Rosa Conte; Claudio Rapezzi; Luca Boni; Barry J Maron Journal: Am J Cardiol Date: 2014-02-12 Impact factor: 2.778
Authors: William P McNair; Gianfranco Sinagra; Matthew R G Taylor; Andrea Di Lenarda; Debra A Ferguson; Ernesto E Salcedo; Dobromir Slavov; Xiao Zhu; John H Caldwell; Luisa Mestroni Journal: J Am Coll Cardiol Date: 2011-05-24 Impact factor: 24.094
Authors: Luis R Lopes; Anna Zekavati; Petros Syrris; Mike Hubank; Claudia Giambartolomei; Chrysoula Dalageorgou; Sharon Jenkins; William McKenna; Vincent Plagnol; Perry M Elliott Journal: J Med Genet Date: 2013-02-08 Impact factor: 6.318