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Cited by 84Metabolism and Genetic DisordersGenetic and rare skin diseases.Genomics and Rare Diseases

Pathogenesis, epidemiology, diagnosis and clinical aspects of smith-lemli-opitz syndrome

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Bianconi, Simona E, Cross, Joanna L, Wassif, Christopher A, Porter, Forbes D·2015·Expert Opinion on Orphan Drugs
DOI 10.1517/21678707.2015.1014472PMC PMC4343216
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Abstract

INTRODUCTION: Smith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of cholesterol. The syndrome is characterized by typical dysmorphic facial features, multiple malformations, and intellectual disability. AREAS COVERED: In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the patients. We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to SLOS. The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. EXPERT OPINION: Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing neurological dysfunction. We discuss the difficulty of treating this disorder, which manifests as a combination of a malformation syndrome and an inborn error of metabolism. A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials.

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  1. [40]Kelley RI Herman GE Inborn errors of sterol biosynthesis Annu Rev Genomics Hum Genet 2001 2 299 341 11701653
  2. [76]Kelley RI A new face for an old syndrome Am J Med Genet 1997 68 3 251 6 9024554
  3. Nowaczyk MJM Pagon RA Adam MP Ardinger HH Bird TD Dolan CR Fong CT Smith-Lemli-Opitz Syndrome GeneReviews(R) Seattle WA University of Washington, Seattle 1993 regularly updated clinical overview with emphasis on testing strategies and molecular background 20301322
  4. [85]Zimmerman PA Hercules DM Naylor EW Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry Am J Med Genet 1997 68 3 300 4 9024563
  5. [90]Linck LM Lin DS Flavell D Connor WE Steiner RD Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome Am J Med Genet 2000 93 5 360 5 10951458
  6. [92]Nwokoro NA Mulvihill JJ Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome Am J Med Genet 1997 68 3 315 21 9024566
  7. [94]Elias ER Irons MB Hurley AD Tint GS Salen G Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet 1997 68 3 305 10 9024564
  8. [101]Krakowiak PA Nwokoro NA Wassif CA Battaile KP Nowaczyk MJ Connor WE Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping Am J Med Genet 2000 94 3 214 27 10995508
  9. [107]Atchaneeyasakul LO Linck LM Connor WE Weleber RG Steiner RD Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome Am J Med Genet 1998 80 5 501 5 9880216

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Authors
Bianconi, S. E., Cross, J. L., Wassif, C. A., & Porter, F. D.
Affiliations
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
  • National Institutes of Health (US)
ORCID
Venue
Expert Opinion on Orphan Drugs
Publisher
Informa UK Limited
Published
2015-02-16
Volume
3
Issue
3
Pages
267-280
ISSN
2167-8707 (ISSN-L)
DOI
10.1517/21678707.2015.1014472
PMC
PMC4343216
OpenAlex
W1982563623
Cited by
84
References
112
Citations by year
2026: 5 · 2025: 8 · 2024: 28 · 2023: 3 · 2022: 2 · 2021: 7 · 2020: 6 · 2019: 5 · 2018: 5 · 2017: 5 · 2016: 7 · 2015: 3
FWCI
5.48
Type
journal article
Language
en
Open access
Locations
  • Expert Opinion on Orphan Drugs (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Wellcome Trust
  • National Institutes of Health
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (Z01HD000139)
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.
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, cholesterol biosynthesis, inborn errors of metabolism, autosomal recessive inheritance, malformation syndromes, intellectual disability, facial dysmorphism, clinical phenotype, epidemiology, population genetics, diagnosis, treatment and management, neurological disorders

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