AP-517-03 WHOLE EXOME SEQUENCING IDENTIFIES TWO NOVEL EXTREMELY RARE CANDIDATE VARIANTS ASSOCIATED WITH THE SHORT QT SYNDROME IN TWO LARGE PEDIGREES

Abstract

Short QT syndrome (SQTS) is caused by pathogenic variants predominantly in the KCNQ1, KCNH2, KCNJ2 genes and genes encoding for different subunits of the L-type calcium channel. Recently, a variant in the SLC4A3 gene has been associated with the SQTS as well.