Metabolism and Genetics of Hypobetalipoproteinemia

Hypobetalipoproteinemia is characterized by extremely low levels of low-density lipoprotein cholesterol. Familial hypobetalipoproteinemia (FHBL) is a monogenic form of hypobetalipoproteinemia caused by mutations in the APOB gene. There are cases of hypobetalipoproteinemia not caused by mutations in APOB, however. The purpose of this study is to identify novel genetic causes of hypobetalipoproteinemia.]]> Cases included in the study have hypobetalipoproteinemia and at least one affected first degree relative. Controls included in the study are relatives without hypobetalipoproteinemia]]> Study participants were recruited from the Washington University Lipid Research Center. In 2010, we used exome sequencing to identify loss of function of ANGPTL3 as a cause of familial combined hypolipidemia.]]>