Mutational Spectrum of Congenital Long QT Syndrome in Turkey; Identification of Twelve Novel Mutations Across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, CALM1.
Özlem Akgün DoğanNihat Buğra AğaoğluYasemin Kendir DemirkolLevent DoğanayYakup ErgülMehmet KaracanPublished in: Journal of cardiovascular electrophysiology (2021)
Our study expands the spectrum of the variations associated with LQTS with twelve novel variants in five genes. And also it draws attention to the frequency of the KCNQ1 c.1097G>A variant and forms the basis for new studies to determine the possible founder effect in the Turkish population. Furthermore, identifying new variants and clinical findings has importance in elaborating the roles of related genes in pathophysiology and determining the variable expression and incomplete penetration rates in this syndrome. This article is protected by copyright. All rights reserved.