Journal
ANNALS OF HUMAN GENETICS
Volume 67, Issue -, Pages 269-280Publisher
BLACKWELL PUBLISHING LTD
DOI: 10.1046/j.1469-1809.2003.00034.x
Keywords
Smith-Lentli-Opitz syndrome; 7-dehydrocholesterol reductase; mutations; cholesterol
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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 activin, 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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