title: Smith-Lemli-Opitz syndrome and the DHCR7 gene.
abstract: Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, is caused by a defect of cholesterol biosynthesis. Low cholesterol and high concentrations of its direct precursor, 7-dehydrocholesterol, in plasma and tissues are the diagnostic biochemical hallmarks of the syndrome. The plasma sterol concentrations correlate with severity and disease outcome. Mutations in the DHCR7 gene lead to deficient activity of 7-dehydrocholesterol reductase (DHCR7), the final enzyme of the cholesterol biosynthetic pathway. The human DHCR7 gene is localised on chromosome 11q13 and its structure has been characterized. Ninety-one different mutations in the DHCR7 gene have been published to date. This paper is a review of the clinical, biochemical and molecular genetic aspects.
authors.affiliation: Department of Pediatrics, University Medical Centre Nijmegen, 6500 HB Nijmegen, the Netherlands.
authors.forename: P E
authors.initials: PE
authors.lastname: Jira
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J A M
authors.initials: JA
authors.lastname: Smeitink
authors.forename: R C A
authors.initials: RC
authors.lastname: Sengers
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D002784:Cholesterol / Q000096:biosynthesis*; D002880:Chromosomes, Human, Pair 11; D006801:Humans; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism
chemical_list: D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase