Abstract
In recent years, several inherited human disorders caused by defects in cholesterol biosynthesis have been identified. These are characterized by malformations, multiple congenital anomalies, mental and growth retardation and/or skeletal and skin abnormalities indicating a pivotal role of cholesterol in morphogenesis and embryonic development. The first recognized and most common of these developmental disorders is Smith-Lemli-Opitz syndrome, an autosomal recessive trait caused by mutations in the DHCR7 gene resulting in a deficiency of the encoded sterol Delta(7)-reductase, alternatively called 7-dehydrocholesterol reductase (EC 1.3.1.21). This enzyme catalyzes the final step in cholesterol biosynthesis, which is the reduction of the Delta(7) double bond of 7-dehydrocholesterol to produce cholesterol.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Biomarkers / blood
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Cholesterol / biosynthesis*
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Cholesterol / blood
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Chromosome Mapping
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Cloning, Molecular
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DNA, Complementary / biosynthesis
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Dehydrocholesterols / blood
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Dehydrocholesterols / metabolism
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Disease Models, Animal
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Heterozygote
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Humans
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Models, Chemical
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Models, Molecular
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Mutation*
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Oxidoreductases / deficiency*
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Oxidoreductases / genetics*
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Oxidoreductases / metabolism
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Oxidoreductases Acting on CH-CH Group Donors*
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Signal Transduction
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Smith-Lemli-Opitz Syndrome / embryology
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Smith-Lemli-Opitz Syndrome / enzymology*
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Smith-Lemli-Opitz Syndrome / genetics
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Smith-Lemli-Opitz Syndrome / pathology
Substances
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Biomarkers
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DNA, Complementary
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Dehydrocholesterols
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Cholesterol
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7-dehydrocholesterol
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Oxidoreductases
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Oxidoreductases Acting on CH-CH Group Donors
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7-dehydrocholesterol reductase