In vitro characterization revealed five new potential pathogenic variants in the APOB gene

Abstract

Background and Aims: Familial hypercholesterolemia (FH) is a disease inherited with a dominant trait, caused by pathogenic variants in the LDLR, APOB, PCSK9 genes. The identification of a pathogenic variant allows to confirm clinical diagnosis and extend genetic screening to the patient’s relatives. According to the guidelines for the interpretation of sequence variants, most of APOB variants remain of uncertain significance. To improve the interpretation of genetic screening, we aim to perform an in vitro characterization of 5 APOB rare variants identified at heterozygous status in FH patients.