Severely affected familial hypercholesterolaemia patients with double and triple heterozygous mutations of candidate genes

Abstract

Background and Aims: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance caused by various mutations in the genes encoding the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein (Apo) B100, the proprotein convertase subtilisin/kexin type 9 (PCSK9) and signal-transducing adaptor family member 1 (STAP1). We present three cases of a severely affected FH probands with double and triple heterozygous mutations of these candidate genes.