The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

Nowaczyk, MJM; Waye, JS

doi:10.1034/j.1399-0004.2001.590601.x

Cited by 61Metabolism and Genetic DisordersGenetic and rare skin diseases.Cholesterol and Lipid Metabolism

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

Nowaczyk, MJM, Waye, JS·2001·Clinical Genetics

DOI 10.1034/j.1399-0004.2001.590601.x

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Abstract

The brief history of the Smith-Lemli-Opitz syndrome (SLOS) (MIM 270400) reflects that of latter 20th century dysmorphology and biochemical and molecular genetics: from its first description as a rare but characteristic multiple malformation syndrome known only to a handful of dysmorphologists, to a relatively common Garrodian defect with a complex molecular basis that has captured the attention of researchers and basic scientists from the fields as diverse as embryology, developmental biology, sterol biochemistry, epidemiology, and teratology. The discovery of the underlying biochemical defect - deficiency of 3beta-hydroxysteroid-Delta7-reductase (DHCR7), an enzyme catalyzing the last step of cholesterol biosynthesis, and the resultant generalized cholesterol deficiency - has led to an explosion of knowledge of this biochemical pathway and to a paradigm shift in the recognition of metabolic deficiencies as causes of dysmorphic syndromes. Characterization of the human DHCR7 gene and the identification of mutations in patients with SLOS have revealed a complex picture of molecular heterogeneity and provided insights into the structure and function of DHCR7. SLOS is the first metabolic malformation syndrome with profound effects on the body plan, and its discovery has paved the way to the discovery of a number of other defects of the cholesterol synthetic pathway.

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CYP11A1 action on 7DHC in vivo is supported by detection of Δ7-steroids in Smith-Lemli-Opitz syndrome patients.
“CYP11A1 action on 7DHC in vivo is further supported by detection of Δ7steroids in Smith-Lemli-Opitz syndrome patients.”
From Novel activities of CYP11A1 and their potential physiological significance (2015) · cites this paper as [58]

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Authors: Nowaczyk, M., & Waye, J.
Venue: Clinical Genetics
Publisher: Wiley
Published: 2001-06
Volume: 59
Issue: 6
Pages: 375-386
ISSN: 0009-9163 (ISSN-L)
1399-0004
DOI: 10.1034/j.1399-0004.2001.590601.x
OpenAlex: W1926963349
Cited by: 61
References: 72
Citations by year: 2025: 2 · 2024: 1 · 2021: 1 · 2020: 1 · 2019: 2 · 2018: 2 · 2016: 2 · 2015: 2 · 2014: 2 · 2013: 2 · 2012: 3
FWCI: 0.58
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 202 d)
Locations: Clinical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: 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.
Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords: Smith-Lemli-Opitz syndrome, DHCR7, cholesterol biosynthesis, cholesterol deficiency, dysmorphology, embryonic development, developmental biology, teratology, molecular genetics, genetic mutations
MeSH terms: Forecasting, Genotype, Humans, Morphogenesis, Mutation, Oxidoreductases, Phenotype, Sterols, Incidence, Smith-Lemli-Opitz Syndrome, Oxidoreductases Acting on CH-CH Group Donors

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The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

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