Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.

Congenital long QT-syndrome (LQTS) is an inherited cardiac arrhythmia, which is characterized by a prolonged QT interval which predisposes to sudden cardiac death due to ventricular arrhythmias. The altered functions are based on different mutations in LQTS-associated genes. In this study, we performed a mutation analysis for the detection of 125 LQTS-associated single nucleotide polymorphisms (SNPs) focused on the genes KCNQ1, KCNH2, and SCN5A by using the SNaPshot multiplex minisequencing technique. Furthermore, we investigated 152 autopsy-negative cases from younger adults and infants, as well as samples from patients with clinically suspicion for LQTS, in which we found two types of variations.