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Cited by 418Cholesterol and Lipid MetabolismMetabolism and Genetic DisordersGenetic and rare skin diseases.

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

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Wassif, Christopher A., Maslen, Cheryl, Kachilele-Linjewile, Stivelia, Lin, Don, Linck, Leesa M., Connor, William E., Steiner, Robert D., Porter, Forbes D.·1998·The American Journal of Human Genetics
DOI 10.1086/301936PMC PMC1377256
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  • Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency of 7-dehydrocholesterol reductase, the enzyme responsible for the last step of cholesterol biosynthesis, resulting from mutations in DHCR7.

    “Smith–Lemli–Opitz syndrome (SLOS) is caused by the deficiency of 7-dehydrocholesterol (7DHC) reductase, the enzyme responsible for the last step of cholesterol biosynthesis [44], resulting from mutations in DHCR7 [45–47].”

    From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [46]

    The Abstract and Discussion identify DHCR7 as the gene encoding 7-dehydrocholesterol reductase and report mutations in three patients with SLOS. The Discussion concludes that DHCR7 mutations cause “at least some cases” and allows that milder cases may involve another gene; it does not establish the unqualified claim for all SLOS cases. (LLM, conf=0.86)

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Research works printed but not linked: 3

  1. [7]7. Cunniff, C ∙ Kratz, LE ∙ Moser, A ... Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol Am J Med Genet. 1997; 68:263-269 Crossref Scopus (177) PubMed Google Scholar
  2. [9]9. Dehart, DB ∙ Lanoue, L ∙ Tint, GS ... Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome Am J Med Genet. 1997; 68:328-337 Crossref Scopus (62) PubMed Google Scholar
  3. [11]11. Gorlin, RJ ∙ Cohen, MM ∙ Levin, LS Syndromes of the head and neck. Vol 19 in: Oxford monograms on medical genetics Oxford University Press, Oxford, 1990; 890-894 Google Scholar

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Authors
Wassif, C. A., Maslen, C., Kachilele-Linjewile, S., Lin, D., Linck, L. M., Connor, W. E., Steiner, R. D., & Porter, F. D.
Affiliations
  • National Institutes of Health (US)
  • Oregon Health & Science University (US)
Corresponding author
Porter, Forbes D.
ORCID
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
1998-07
Volume
63
Issue
1
Pages
55-62
ISSN
0002-9297 (ISSN-L)
DOI
10.1086/301936
PMC
PMC1377256
OpenAlex
W2084085906
Cited by
418
References
27
Citations by year
2026: 4 · 2025: 12 · 2024: 10 · 2023: 8 · 2022: 9 · 2021: 14 · 2020: 12 · 2019: 5 · 2018: 7 · 2017: 8 · 2016: 14 · 2015: 9 · 2014: 17 · 2013: 12 · 2012: 12
FWCI
32.98
Type
journal article
Language
en
Open access
Licence
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • U.S. Public Health Service
  • National Center for Research Resources (M01RR000334, 5M01 RR00334)
Topics
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords
Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, cholesterol biosynthesis, cDNA cloning, radiation hybrid mapping, mutant allele
MeSH terms
Alleles, Amino Acid Sequence, Base Sequence, Cell Line, Cholesterol, Chromosome Mapping, Chromosomes, Human, Pair 11, Cloning, Molecular, Dehydrocholesterols, DNA Mutational Analysis, Humans, Molecular Sequence Data, Oxidoreductases, RNA, Messenger, Transfection, Arabidopsis, Sequence Homology, Amino Acid, Sequence Analysis, DNA, Smith-Lemli-Opitz Syndrome, Oxidoreductases Acting on CH-CH Group Donors

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