Next generation sequencing in severe hypertrigliceridemia: Identification of a novel nonsense mutation of CREB3L3 gene

Abstract

Background and Aims : Hypertriglyceridemia (HTG) is a common form of dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. The severe forms are characterized by very high plasma levels of triglycerides (TG). Monogenic autosomal recessive forms are characterized by homozygous or compound heterozygous loss-of-function mutations of genes involved in the intravascular lipolysis of the triglyceride-rich lipoproteins, namely lipoprotein lipase, apolipoprotein C2, apolipoprotein A5, glycophosphatidylinositol (GPI)-anchored high-density lipoprotein-binding protein 1, lipase maturation factor 1, and glycerol-3-phosphate dehydrogenase 1.