New mutations in APOB100 involved in familial hypobetalipoproteinemia

Abstract 

Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins. Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation.

Keywords: APOB100, LDL, Hypolipoproteinemia, Mutation, Malabsorption, Vitamin deficiency