A novel missense variant in CREB3L3 gene associated with severe hypertriglyceridemia

Abstract

Background and Aims : Severe hypertriglyceridemia (HTG) is a rare disease consisting in increased plasma triglyceride (TG) levels (>10 mmol/L). Patients can show eruptive xanthomas, lipaemia retinalis, hepatosplenomegaly and pancreatitis. For long time five genes were considered causative of the disease with autosomal recessive inheritance: Lipoprotein lipase (LPL), Apolipoprotein A-V (APOA5), Apolipoprotein C-II (APOC2), Glycosyl-phosphatidyl-inositol-anchored HDL-binding protein (GPIHBP1) and Lipase maturation factor-1 (LMF1).