Smith-Lemli-Opitz syndrome and the DHCR7 gene.
SourceAnnals of Human Genetics, 67, Pt 3, (2003), pp. 269-280
Article / Letter to editor
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Paediatrics - OUD tm 2017
Annals of Human Genetics
iss. Pt 3
SubjectUMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism
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.
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