Disorders of Cholesterol Biosynthesis, Genetics of

Abstract

Smith‐Lemli‐Opitz syndrome (SLOS) is the most common and best understood of the inborn errors of cholesterol metabolism. Comprising a heterogeneous group of disorders, inborn errors in cholesterol biosynthesis result in characteristic but variable phenotypes. SLOS is an inherited disorder caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthetic pathway. The features of SLOS are thought to be related to cholesterol deficiency and/or accumulation of cholesterol precursors and their metabolites. Therefore, supplementation of cholesterol is a commonly employed potential therapy. A better understanding of SLOS and other inborn errors of cholesterol biosynthesis may shed light on the importance of cholesterol biosynthesis in embryo‐ and morphogenesis and provide clues to treatment.