The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
Open accessAbstract
A method is described for quantification of 7-dehydrocholesterol (7DHC) and other neutral sterols by gas chromatography/mass spectrometry for diagnosis of Smith-Lemli-Opitz syndrome, an apparent primary defect of cholesterol biosynthesis associated with low plasma levels of cholesterol and high levels of its precursor, 7DHC. Results are summarized for specimens from normal controls and from 40 patients with Smith-Lemli-Opitz syndrome (SLOS). Whereas the concentration of 7DHC (as a combined peak of 7DHC and iso-7DHC) in normal infant plasma was found to be 0.10 +/- 0.05 (S.D.) microgram/ml, the level in patients with SLOS ranged from 2.7 to 470 micrograms/ml, or from 10 to more than 2000 times the upper limit of normal. Patients with milder type I SLOS as well as those with the more severe type II SLOS were found to have the same sterol abnormality. Although most infants with SLOS had plasma cholesterol levels lower than 400 micrograms/ml (40 mg/dl), several older children with only mildly increased levels of 7DHC had normal plasma cholesterol levels. Diagnostically useful, comparably increased levels of 7DHC were found in amniotic fluid and cultured skin fibroblasts from patients with SLOS. More mildly increased levels of 7DHC were also found in both plasma and cultured skin fibroblasts of SLOS heterozygotes. The method described uses capillary columns and GC/MS instrumentation available in most biochemical genetics laboratories and should prove useful not only for diagnosis and prenatal diagnosis of Smith-Lemli-Opitz syndrome, but also for identification of other possible inborn errors of sterol biosynthesis.
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“The SLOS anatomical severity score and gross neurologic pathology inversely correlate with cholesterol and the ratio of 7DHC + 8-dehydrocholesterol (8DHC) to cholesterol [48, 49];”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [48]
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Cites
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
A newly recognized syndromeof multiple congenital anomalies
Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80264-x · Cited by 650
β-Sitosterolemia and Xanthomatosis
Bhattacharyya, A. K., & Connor, W. E. (1974) · Journal of Clinical Investigation · doi:10.1172/jci107640 · Cited by 584
Eneroth, P. H. E., Hellström, K., & Ryhage, R. (1964) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)40246-9 · Cited by 275
Curry, C. J., Carey, J. C., Holland, J. S., Chopra, D. R., Fineman, R. M., Golabi, M., Sherman, S., Pagon, R. A., Allanson, J. E., Shulman, S., et al. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320260110 · Cited by 225
Kandutsch, A. A., & Russell, A. E. (1960) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64608-3 · Cited by 217
Berginer, V. M., Abeliovich, D., & Opitz, J. M. (1981) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320100209 · Cited by 70
Donnai, D., Young, I. D., Owen, W. G., Clark, S., Miller, P. F., & Knox, W. F. (1986) · Journal of Medical Genetics · doi:10.1136/jmg.23.1.64 · Cited by 67
Chasalow, F. I., Blethen, S. L., & Taysi, K. (1985) · Steroids · doi:10.1016/0039-128x(85)90032-7 · Cited by 65
Abnormal bile acids in the Smith‐Lemli‐Opitz syndrome
Natowicz, M. R., & Evans, J. E. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320500413 · Cited by 63
Cited by
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Free Radical Lipid Peroxidation: Mechanisms and Analysis
Yin, H., Xu, L., & Porter, N. A. (2011) · Chemical Reviews · doi:10.1021/cr200084z · Cited by 2,031
The Smith-Lemli-Opitz syndrome
Kelley, R. I., & Hennekam, R. C. M. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.5.321 · Cited by 480
Self-citationMalformation syndromes caused by disorders of cholesterol synthesis
Porter, F. D., & Herman, G. E. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r009548 · Cited by 473
Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome
Wassif, C. A., Maslen, C., Kachilele-Linjewile, S., Lin, D., Linck, L. M., Connor, W. E., Steiner, R. D., & Porter, F. D. (1998) · The American Journal of Human Genetics · doi:10.1086/301936 · Cited by 418
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
Cooper, M. K., Wassif, C. A., Krakowiak, P. A., Taipale, J., Gong, R., Kelley, R. I., Porter, F. D., & Beachy, P. A. (2003) · Nature Genetics · doi:10.1038/ng1134 · Cited by 390
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Metadata
- Authors
- Kelley, R. I.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Kelley, Richard I.
- ORCID
- Kelley, Richard I.
- Venue
- Clinica Chimica Acta
- Publisher
- Elsevier BV
- Published
- 1995-04
- Volume
- 236
- Issue
- 1
- Pages
- 45-58
- ISSN
- 0009-8981 (ISSN-L)
- OpenAlex
- W2038396364
- Cited by
- 234
- References
- 16
- Citations by year
- 2025: 6 · 2024: 4 · 2023: 2 · 2022: 6 · 2021: 8 · 2020: 7 · 2019: 4 · 2018: 6 · 2017: 4 · 2016: 4 · 2015: 11 · 2014: 8 · 2013: 10 · 2012: 9
- FWCI
- 6.03
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Clinica Chimica Acta (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD07107, HD24061, HD-10981, P30HD024061, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, cholesterol biosynthesis, neutral sterols, serum cholesterol, amniotic fluid, cultured skin fibroblasts, prenatal diagnosis, heterozygotes
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Amniotic Fluid, Cells, Cultured, Child, Child, Preschool, Cholesterol, Dehydrocholesterols, Fibroblasts, Humans, Infant, Lipid Metabolism, Inborn Errors, Gas Chromatography-Mass Spectrometry, Skin, Sterols, Molecular Structure
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