Cosegregation of P.H343r ANGPTL3 missense variant in a family with hypobetalipoproteinemia

Abstract

Background and Aims : Angiopoietin-like 3 (ANGPTL3) is a protein involved in lipid metabolism, inhibiting the lipoprotein lipase. If loss of function variants in ANGPTL3 have been identified in patients with primary hypobetalipoproteinemia, the effect of heterozygous missense variants remains not consensual. The heterozygous p.H343R missense variant in ANGPTL3 identified in a family referred to our laboratory was found to cosegregate with hypobetalipoproteinemia. The aim of the present study was to assess in vitro the functionality of this variant.