Further observations on familial hypobetaliproteinaemia

Abstract

A family with hypobetalipoproteinemia with 10 affected members is described. In 6 patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10% of normal. In 4, LDL-c was reduced to about 50% of normal; these 4 patients probably represent the intermediate form of hypobetalipoproteinemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a 2nd locus.