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. 2017 Mar;131(2):333-338.
doi: 10.1007/s00414-016-1446-9. Epub 2016 Sep 9.

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

Edelmann J  1 , Dobosz T  2 , Sobieszczanska M  3 , Kawecka-Negrusz M  4 , Dreßler J  5 , Nastainczyk-Wulf M  5
Affiliations

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

Edelmann J et al. Int J Legal Med. 2017 Mar.

Abstract

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.

Keywords: KCNH2; KCNQ1; Long QT-syndrome (LQTS); SCN5A; SNaPshot technique; Single nucleotide polymorphisms (SNPs); Sudden cardiac death (SCD).

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