Genetic analysis of a rare form of dyslipidemia: De novo ABCG5/APOB mutations in Greece

Abstract

Background and Aims : Sitosterolemia is a rare autosomal recessive inherited metabolic disorder of lipids, characterized by increased levels of plant sterols in plasma. It is caused by mutations in gABCG5 or ABCG8 genes and recent studies have revealed the fact that heterozygous mutation carriers also exhibit milder manifestations.