Mol Genet Metab. 2005 Feb;84(2):112-26. Epub 2004 Dec 19.

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

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Unit on Molecular Dysmorphology, Heritable Disorders Branch, Department of Health and Human Services, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Abstract

In the final step of cholesterol synthesis, 7-dehydrocholesterol reductase (DHCR7) reduces the double bond at C7-8 of 7-dehydrocholesterol to yield cholesterol. Mutations of DHCR7 cause Smith-Lemli-Opitz syndrome (SLOS). Over 100 different mutations of DHCR7 have been identified in SLOS patients. SLOS is a classical multiple malformation, mental retardation syndrome, and was the first human malformation syndrome shown to result from an inborn error of cholesterol synthesis. This paper reviews the biochemical, molecular, and mutational aspects of DHCR7.

PMID:: 15670717; [PubMed - indexed for MEDLINE]

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Related citations in PubMed

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. [Am J Hum Genet. 1998]
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. Am J Hum Genet. 1998 Jul; 63(1):55-62.
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). [Hum Mutat. 2005]
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Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD. Hum Mutat. 2005 Jul; 26(1):59.
Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. [Br J Dermatol. 2005]
Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
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Review RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. [Mol Genet Metab. 2000]
Review RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
Porter FD. Mol Genet Metab. 2000 Sep-Oct; 71(1-2):163-74.
Review Smith-Lemli-Opitz syndrome and the DHCR7 gene. [Ann Hum Genet. 2003]
Review Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Ann Hum Genet. 2003 May; 67(Pt 3):269-80.

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Cited by 21 PubMed Central articles

Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. [Mol Syndromol. 2012]
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, et al. Mol Syndromol. 2012 Nov; 3(5):215-22. Epub 2012 Nov 9.
Adrenal function in Smith-Lemli-Opitz syndrome. [Am J Med Genet A. 2011]
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA. Am J Med Genet A. 2011 Nov; 155A(11):2732-8. Epub 2011 Oct 11.
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3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Mol Genet Metab. 2005 Feb ;84(2):112-26. Epub 2004 Dec 19 .

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