Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Waterham, Hans R.; Wijburg, Frits A.; Hennekam, Raoul C.M.; Vreken, Peter; Poll-The, Bwee Tien; Dorland, Lambertus; Duran, Marinus; Jira, Petr E.; Smeitink, Jan A.M.; Wevers, Ron A.; Wanders, Ronald J.A.

doi:10.1086/301982

Cited by 296Metabolism and Genetic DisordersCholesterol and Lipid MetabolismGenetic and rare skin diseases.

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

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Waterham, Hans R., Wijburg, Frits A., Hennekam, Raoul C.M., Vreken, Peter, Poll-The, Bwee Tien, Dorland, Lambertus, Duran, Marinus, Jira, Petr E. +3 more·1998·The American Journal of Human Genetics

DOI 10.1086/301982PMC PMC1377322

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Abstract

Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial dysmorphisms, mental retardation, and multiple congenital anomalies. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the final step in the cholesterol-biosynthesis pathway-that is, the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. We identified a partial transcript coding for human 7-dehydrocholesterol reductase by searching the database of expressed sequence tags with the amino acid sequence for the Arabidopsis thaliana sterol Delta7-reductase and isolated the remaining 5' sequence by the "rapid amplification of cDNA ends" method, or 5'-RACE. The cDNA has an open reading frame of 1,425 bp coding for a polypeptide of 475 amino acids with a calculated molecular weight of 54.5 kD. Heterologous expression of the cDNA in the yeast Saccharomyces cerevisiae confirmed that it codes for 7-dehydrocholesterol reductase. Chromosomal mapping experiments localized the gene to chromosome 11q13. Sequence analysis of fibroblast 7-dehydrocholesterol reductase cDNA from three patients with Smith-Lemli-Opitz syndrome revealed distinct mutations, including a 134-bp insertion and three different point mutations, each of which was heterozygous in cDNA from the respective parents. Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase.

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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 [47]

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Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization
Mowery‐Rushton, P., Hanchett, J. M., Zipf, W. B., Rogan, P. K., & Surti, U. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19961230)66:4 · Cited by 12 · see citing works
Retracted
Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669 · see citing works
Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development
Porter, J. A., Young, K. E., & Beachy, P. A. (1996) · Science · doi:10.1126/science.274.5285.255 · Cited by 1,360 · see citing works
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 · see citing works
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 · see citing works
High-resolution mapping of mammalian genes by in situ hybridization to free chromatin.
Heng, H. H., Squire, J. A., & Tsui, L.-C. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.20.9509 · Cited by 520 · see citing works
Modes of DAPI banding and simultaneous in situ hybridization
Heng, H. H., & Tsui, L. (1993) · Chromosoma · doi:10.1007/bf00661275 · Cited by 397 · see citing works
Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane
Ye, Q., & Worman, H. J. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)78126-5 · Cited by 239 · see citing works
Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
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 · see citing works
Molecular cloning and expression of the human Δ7-sterol reductase
Moebius, F. F., Fitzky, B. U., Lee, J. N., Paik, Y., & Glossmann, H. H. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.4.1899 · Cited by 221 · see citing works
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein
IJlst, L., Wanders, R. J. A., Ushikubo, S., Kamijo, T., & Hashimoto, T. (1994) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(94)90064-7 · Cited by 158 · see citing works
Self-citation
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
Tint, G. S., Salen, G., BATTA, A. K., Shefer, S., Irons, M., Elias, E. R., Abuelo, D. N., Johnson, V. P., Lambert, M. A., Lutz, R., et al. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70261-x · Cited by 144 · see citing works
Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
Irons, M., Elias, E. R., Abuelo, D. N., Bull, M. J., Greene, C. L., Johnson, V. P., Keppen, L. D., Schanen, C., Tint, G. S., & Salen, G. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970131)68:3 · Cited by 138 · see citing works
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
Shefer, S., Salen, G., Batta, A. K., Honda, A., Tint, G. S., Irons, M., Elias, E. R., Chen, T. C., & Holick, M. F. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118223 · Cited by 138 · see citing works
Cholesterol metabolism and embryogenesis
Farese, R. V., & Herz, J. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(97)01377-2 · Cited by 136 · see citing works
Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog
Lanoue, L., Dehart, D. B., Hinsdale, M. E., Maeda, N., Tint, G. S., & Sulik, K. K. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971128)73:1 · Cited by 114 · see citing works
Recent advances in hedgehog signalling
Tabin, C. J., & McMahon, A. P. (1997) · Trends in Cell Biology · doi:10.1016/s0962-8924(97)01159-8 · Cited by 85 · see citing works
Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conference
Opitz, J. M., & de la Cruz, F. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320500406 · Cited by 75 · see citing works
The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.
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 · see citing works
Cloning by Metabolic Interference in Yeast and Enzymatic Characterization of Arabidopsis thaliana Sterol Δ7-Reductase
Lecain, É., Chenivesse, X., Spagnoli, R., & Pompon, D. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.18.10866 · Cited by 63 · see citing works
Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome
Honda, M., Tint, G. S., Honda, A., Batta, A. K., Chen, T. S., Shefer, S., & Salen, G. (1996) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)37491-5 · Cited by 33 · see citing works
Smith‐Lemli‐Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS gene
Wallace, M. R., Zori, R. T., Alley, T. L., Whidden, E. M., Gray, B. A., & Williams, C. A. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320500414 · Cited by 30 · see citing works
Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
Alley, T. L., Gray, B. A., Lee, S. H., Scherer, S. W., Tsui, L.-C., Tint, G. S., Williams, C. A., Zori, R. T., & Wallace, M. R. (1995) · Europe PMC (PubMed Central) · Cited by 29 · see citing works
Highly increased CSF concentrations of cholesterol precursors in Smith‐Lemli‐Opitz syndrome
van Rooij, A., Nijenhuis, A. A., Wijburg, F. A., & Schutgens, R. B. H. (1997) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005355026186 · Cited by 23 · see citing works
Self-citation
Smith‐Lemli‐Opitz syndrome: Deficient Δ7‐reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre‐ and postnatal detection
Wanders, R. J. A., Romeijn, G. J., Wijburg, F. A., Hennekam, R. C. M., de Jong, J. G. N., Wevers, R. A., & Dacremont, G. (1997) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005371104822 · Cited by 7 · see citing works
Self-citation

Flagged first, then by citations

3 of the 28 references couldn’t be matched to a known paper.

Sorted by citations

Hirschsprung disease, associated syndromes and genetics: a review
Amiel, J., Emison, E. S., Garcia‐Barceló, M. ‐., Lantieri, F., Burzynski, G. M., Borrego, S., Pelet, A., Arnold, S. M., Miao, X., Griseri, P., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053959 · Cited by 1,205 · see citing works
1 Developmental roles and clinical significance of Hedgehog signaling
McMahon, A. P., Ingham, P. W., & Tabin, C. J. (2003) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(03)53002-2 · Cited by 913 · see citing works
Biosynthesis of Cholesterol and Other Sterols
Nes, W. D. (2011) · Chemical Reviews · doi:10.1021/cr200021m · Cited by 635 · see citing works
Hirschsprung disease, associated syndromes, and genetics: a review
Amiel, J., & Lyonnet, S. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.11.729 · Cited by 479 · see citing works
Cholesterol homeostasis and function in neurons of the central nervous system
Pfrieger, F. W. (2003) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-003-3018-7 · Cited by 453 · see citing works
Malformation 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 · see citing works
Genetics of craniofacial development and malformation
Wilkie, A. O. M., & Morriss‐Kay, G. M. (2001) · Nature Reviews Genetics · doi:10.1038/35076601 · Cited by 436 · see citing works
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 · see citing works
Self-citation
Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis
Waterham, H. R., Koster, J., Romeijn, G. J., Hennekam, R. C. M., Vreken, P., Andersson, H. C., FitzPatrick, D. R., Kelley, R. I., & Wanders, R. J. A. (2001) · The American Journal of Human Genetics · doi:10.1086/323473 · Cited by 355 · see citing works
Self-citation
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
Porter, F. D. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.10 · Cited by 318 · see citing works
Regulation of glucose and lipid metabolism in health and disease
Chen, L., Chen, X., Huang, X., Song, B., Wang, Y., & Wang, Y. (2019) · Science China Life Sciences · doi:10.1007/s11427-019-1563-3 · Cited by 309 · see citing works
The molecular genetics of holoprosencephaly
Roessler, E., & Muenke, M. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30236 · Cited by 255 · see citing works
Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene
Waterham, H. R., Koster, J., Mooyer, P. A. W., van Noort, G., Kelley, R. I., Wilcox, W. R., Wanders, J. A. R., Hennekam, R. C. M., & Oosterwijk, C. J. (2003) · The American Journal of Human Genetics · doi:10.1086/373938 · Cited by 218 · see citing works
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Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology
Nowaczyk, M. J. M., & Irons, M. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31343 · Cited by 202 · see citing works
Astrocyte lipid metabolism is critical for synapse development and function in vivo
van Deijk, A. F., Camargo, N., Timmerman, J., Heistek, T., Brouwers, J. F., Mogavero, F., Mansvelder, H. D., Smit, A. B., & Verheijen, M. H. G. (2017) · Glia · doi:10.1002/glia.23120 · Cited by 201 · see citing works
DHCR7: A vital enzyme switch between cholesterol and vitamin D production
Prabhu, A. V., Luu, W., Li, D., Sharpe, L. J., & Brown, A. J. (2016) · Progress in Lipid Research · doi:10.1016/j.plipres.2016.09.003 · Cited by 192 · see citing works
Teratogenesis of holoprosencephaly
Cohen, M. M., & Shiota, K. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10258 · Cited by 194 · see citing works
Lesions in the sterol Δ 7 reductase gene of Arabidopsis cause dwarfism due to a block in brassinosteroid biosynthesis
Choe, S., Tanaka, A., Noguchi, T., Fujioka, S., Takatsuto, S., Ross, A. S., Tax, F. E., Yoshida, S., & Feldmann, K. A. (2000) · The Plant Journal · doi:10.1046/j.1365-313x.2000.00693.x · Cited by 190 · see citing works
Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
Witsch‐Baumgartner, M., Fitzky, B. U., Ogorelkova, M., Kraft, H. G., Moebius, F. F., Glossmann, H. H., Seedorf, U., Gillessen‐Kaesbach, G., Hoffmann, G. F., Clayton, P. T., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302760 · Cited by 188 · see citing works
I NBORN E RRORS OF S TEROL B IOSYNTHESIS
Kelley, R. I., & Herman, G. E. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.299 · Cited by 168 · see citing works
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome
Wassif, C. A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.6.555 · Cited by 164 · see citing works
Human developmental disorders and the Sonic hedgehog pathway
Ming, J. E., Roessler, E., & Muenke, M. (1998) · Molecular Medicine Today · doi:10.1016/s1357-4310(98)01299-4 · Cited by 160 · see citing works
The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase
Liu, X. Y., Dangel, A. W., Kelley, R. I., Zhao, W., Denny, P., Botcherby, M., Cattanach, B. M., Peters, J., Hunsicker, P. R., Mallon, A., et al. (1999) · Nature Genetics · doi:10.1038/9700 · Cited by 153 · see citing works
Hedgehog signaling and congenital malformations
Nieuwenhuis, E., & Hui, C. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00360.x · Cited by 151 · see citing works
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Nebert, D., & Dieter, M. Z. (2000) · Pharmacology · doi:10.1159/000028393 · Cited by 138 · see citing works
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Baardman, M. E., Kerstjens‐Frederikse, W. S., Berger, R. M. F., Bakker, M. K., Hofstra, R. M. W., & Plösch, T. (2012) · Biology of Reproduction · doi:10.1095/biolreprod.112.102442 · Cited by 141 · see citing works
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WALLIS, D. E., & Muenke, M. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2895 · Cited by 136 · see citing works
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Shultz, L. D. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg003 · Cited by 136 · see citing works
The Human Lamin B Receptor/Sterol Reductase Multigene Family
Holmer, L. E., Pezhman, A., & Worman, H. J. (1998) · Genomics · doi:10.1006/geno.1998.5615 · Cited by 134 · see citing works
Human malformation syndromes due to inborn errors of cholesterol synthesis
Porter, F. D. (2003) · Current Opinion in Pediatrics · doi:10.1097/00008480-200312000-00011 · Cited by 127 · see citing works
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
Waterham, H. R. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00159-1 · Cited by 121 · see citing works
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Kelley, R. I. (2000) · Advances in Pediatrics · doi:10.1016/s0065-3101(23)00093-2 · Cited by 118 · see citing works
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Jira, P. E., Wevers, R. A., de Jong, J. G. N., Rubio‐Gozalbo, M. E., Janssen-Zijlstra, F. S. M., van Heyst, A. F. J., Sengers, R. C. A., & Smeitink, J. A. M. (2000) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)33442-8 · Cited by 113 · see citing works
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Porter, F. D. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3069 · Cited by 108 · see citing works
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Finnell, R. H., Waes, J. G., Eudy, J. D., & Rosenquist, T. H. (2002) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.42.083001.110955 · Cited by 104 · see citing works
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Yu, H., & Patel, S. B. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00515.x · Cited by 97 · see citing works
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Morris, J. G. (1999) · Journal of Nutrition · doi:10.1093/jn/129.4.903 · Cited by 94 · see citing works
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Self-citation
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Walsh, C. A. (2000) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/(sici)1098-2779(2000)6:1 · Cited by 31 · see citing works
Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting thePMP22 gene
Nadal, M., VALIENTE, A., DOMÈNECH, A., PRITCHARD, M., Estivill, X., & RAMOS-ARROYO, M. A. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.5.396 · Cited by 78 · see citing works
Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma
Gao, P.-S., Mao, X.-Q., Roberts, M. H., Arinobu, Y., Akaiwa, M., Enomoto, T., Dake, Y., Kawai, M., Sasaki, S., Hamasaki, N., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.5.380a · Cited by 142 · see citing works
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J., & Porter, F. D. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl003 · Cited by 75 · see citing works
Mutations in the human DHCR7 gene
Witsch‐Baumgartner, M., Löffler, J., & Utermann, G. (2001) · Human Mutation · doi:10.1002/humu.2 · Cited by 75 · see citing works
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome
Patti, G. J., Shriver, L. P., Wassif, C. A., Woo, H. K., Uritboonthai, W., Apon, J. V., Manchester, M., Porter, F. D., & Siuzdak, G. E. (2010) · Neuroscience · doi:10.1016/j.neuroscience.2010.07.038 · Cited by 74 · see citing works
Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)
Haas, D., Garbade, S. F., Vohwinkel, C. U., Muschol, N., Trefz, F. K., Penzien, J. M., Zschocke, J., Hoffmann, G. F., & Burgard, P. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0537-7 · Cited by 73 · see citing works
DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?
Nowaczyk, M. J. M., Waye, J. S., & Douketis, J. D. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31413 · Cited by 73 · see citing works
Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans
Nwokoro, N. A., Wassif, C. A., & Porter, F. D. (2001) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2001.3226 · Cited by 72 · see citing works
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness
Kovářová, M., Wassif, C. A., Odom, S., Liao, K. P., Porter, F. D., & Rivera, J. (2006) · The Journal of Experimental Medicine · doi:10.1084/jem.20051701 · Cited by 71 · see citing works
CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS
Opitz, J. M., Gilbert‐Barness, E., Ackerman, J., & Lowichik, A. (2002) · Fetal and Pediatric Pathology · doi:10.1080/15227950252852078 · Cited by 70 · see citing works
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Witsch‐Baumgartner, M., Ciara, E., Löffler, J., Hj, M., Seedorf, U., Burn, J., Gillessen‐Kaesbach, G., Hoffmann, G. F., Fitzky, B., Mundy, H. R., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200579 · Cited by 70 · see citing works
RSH/Smith-Lemli-Opitz Syndrome: Mutations and Metabolic Morphogenesis
Kelley, R. I. (1998) · The American Journal of Human Genetics · doi:10.1086/301987 · Cited by 70 · see citing works
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review
Boland, M. R., & Tatonetti, N. P. (2016) · The Pharmacogenomics Journal · doi:10.1038/tpj.2016.48 · Cited by 68 · see citing works
Analysis of short‐term behavioral effects of dietary cholesterol supplementation in Smith–Lemli–Opitz syndrome
Tierney, E., Conley, S. K., Goodwin, H., & Porter, F. D. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33148 · Cited by 66 · see citing works
Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis
Houten, S. M., Romeijn, G. J., Koster, J., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Durán, M., Gibson, K. M., Wanders, R. J. A., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.8.1523 · Cited by 65 · see citing works
Self-citation
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome
Tulenko, T. N., Boeze-Battaglia, K., Mason, R. P., Tint, G. S., Steiner, R. D., Connor, W. E., & LaBelle, E. F. (2005) · Journal of Lipid Research · doi:10.1194/jlr.m500306-jlr200 · Cited by 64 · see citing works
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts
Wassif, C. A., Krakowiak, P. A., Wright, B. S., Gewandter, J. S., Sterner, A. L., Javitt, N. B., Yergey, A. L., & Porter, F. D. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.12.009 · Cited by 64 · see citing works
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology
Nowaczyk, M., & Waye, J. (2001) · Clinical Genetics · doi:10.1034/j.1399-0004.2001.590601.x · Cited by 61 · see citing works
Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol
Björkhem, I., Starck, L., Andersson, U., Lütjohann, D., von Bahr, S., Pikuleva, I. A., Babiker, A., & Diczfalusy, U. (2001) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)31660-6 · Cited by 62 · see citing works
Genetic Defects in Postsqualene Cholesterol Biosynthesis
Moebius, F. F., Fitzky, B. U., & Glossmann, H. H. (2000) · Trends in Endocrinology and Metabolism · doi:10.1016/s1043-2760(00)00235-6 · Cited by 60 · see citing works
Single-fiber PCR in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNAA3243G genotype
Silvestri, G., Rana, M., Odoardi, F., Modoni, A., Paris, E., Papacci, M., Tonali, P., & Servidei, S. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20000918)94:3 · Cited by 25 · see citing works
Cholesterol Biosynthesis from Lanosterol
Kim, J.-H., Lee, J. N., & Paik, Y. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m101661200 · Cited by 60 · see citing works
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
Witsch‐Baumgartner, M., Schwentner, I. M., Gruber, M., Benlian, P., Bertranpetit, J., Bieth, É., Chevy, F., Clusellas, N., Estivill, X., Gasparini, G., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053520 · Cited by 59 · see citing works
Identification of Environmental Quaternary Ammonium Compounds as Direct Inhibitors of Cholesterol Biosynthesis
Herron, J. M., Reese, R. C., Tallman, K. A., Narayanaswamy, R., Porter, N. A., & Xu, L. (2016) · Toxicological Sciences · doi:10.1093/toxsci/kfw041 · Cited by 59 · see citing works
Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production
Steiner, R. D., Linck, L. M., Flavell, D. P., Lin, D. S., & Connor, W. E. (2000) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)33456-8 · Cited by 58 · see citing works
Adrenal function in Smith–Lemli–Opitz syndrome
Bianconi, S. E., Conley, S. K., Keil, M. F., Sinaii, N., Rother, K. I., Porter, F. D., & Stratakis, C. A. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34271 · Cited by 56 · see citing works
Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesity or type 2 diabetes mellitus in Pima Indians
Jenkinson, C., Hanson, R. L., Cray, K., Wiedrich, C., Knowler, W. C., Bogardus, C., & Baier, L. J. (2000) · International Journal of Obesity · doi:10.1038/sj.ijo.0801381 · Cited by 56 · see citing works
Fetal cardiac anomalies and genetic syndromes
Pajkrt, E., Weisz, B., Firth, H. V., & Chitty, L. S. (2004) · Prenatal Diagnosis · doi:10.1002/pd.1067 · Cited by 55 · see citing works
Disorders of cholesterol biosynthesis
Clayton, P. T. (1998) · Archives of Disease in Childhood · doi:10.1136/adc.78.2.185 · Cited by 55 · see citing works
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome
Korade, Ž., Xu, L., Harrison, F. E., Ahsen, R., Hart, S. E., Folkes, O. M., Mirnics, K., & Porter, N. A. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.06.013 · Cited by 54 · see citing works
Smith-Lemli-Opitz Syndrome: The First Malformation Syndrome Associated with Defective Cholesterol Synthesis
Battaile, K. P., & Steiner, R. D. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3020 · Cited by 53 · see citing works
Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts
Wassif, C. A., Vied, D., Tsokos, M., Connor, W. E., Steiner, R. D., & Porter, F. D. (2002) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(02)00010-0 · Cited by 52 · see citing works
Drug-Metabolizing Enzymes, Polymorphisms and Interindividual Response to Environmental Toxicants
Nebert, D. W. (2000) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2000.124 · Cited by 52 · see citing works
CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerase
Grange, D. K., Kratz, L. E., Braverman, N., & Kelley, R. I. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000214)90:4 · Cited by 113 · see citing works
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome
Wassif, C. A., Kratz, L. E., Sparks, S. E., Wheeler, C. S., Bianconi, S. E., Gropman, A. L., Calis, K. A., Kelley, R. I., Tierney, E., & Porter, F. D. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.102 · Cited by 50 · see citing works
Inherited disorders of cholesterol biosynthesis
Waterham, H. R. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610601.x · Cited by 50 · see citing works
Self-citation
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
Correa-Cerro, L. S., Wassif, C. A., Waye, J. S., Krakowiak, P. A., Cozma, D., Dobson, N. R., Levin, S. W., Anadiotis, G., Steiner, R. D., Krajewska‐Walasek, M., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.022749 · Cited by 50 · see citing works
Variable contribution of the MTHFR C677T polymorphism to non‐syndromic cleft lip and palate risk in China
Zhu, J., Ren, A., Hao, L., Lijun, P., Liu, J., Zhu, H., Li, S., Finnell, R. H., & Li, Z. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31115 · Cited by 50 · see citing works
Non-neoplastic diseases of the testis
Nistal, M., & Paniagua, R. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-01970-5.50014-2 · Cited by 50 · see citing works
Lipidomic analysis of the retina in a rat model of Smith–Lemli–Opitz syndrome: alterations in docosahexaenoic acid content of phospholipid molecular species
Ford, D. A., Monda, J. K., Brush, R. S., Anderson, R. E., Richards, M. J., & Fliesler, S. J. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.05203.x · Cited by 49 · see citing works
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver
Honda, A., Salen, G., Shefer, S., BATTA, A. K., Honda, M., Xu, G., Tint, G. S., Matsuzaki, Y., Shoda, J., & Tanaka, N. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)33396-4 · Cited by 49 · see citing works
Systemic lupus erythematosus in a man with Noonan syndrome
Martin, D. M., Gencyuz, C. F., & Petty, E. M. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010722)102:1 · Cited by 21 · see citing works
Materno-fetal cholesterol transport during pregnancy
Kallol, S., & Albrecht, C. (2020) · Biochemical Society Transactions · doi:10.1042/bst20190129 · Cited by 46 · see citing works
The implications of 7-dehydrosterol-7-reductase deficiency (Smith–Lemli–Opitz syndrome) to neurosteroid production
Marcos, J., Guo, L., Wilson, W. K., Porter, F. D., & Shackleton, C. H. L. (2003) · Steroids · doi:10.1016/j.steroids.2003.09.013 · Cited by 46 · see citing works
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome
Anstey, Ryan, Rhodes, L. E., Charman, Arlett, Tyrrell, Taylor, & Pearse (1999) · British Journal of Dermatology · doi:10.1046/j.1365-2133.1999.03032.x · Cited by 46 · see citing works
Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome
Yu, H., Wessels, A., Chen, J., Phelps, A. L., Oatis, J. E., Tint, G. S., & Patel, S. B. (2004) · BMC Developmental Biology · doi:10.1186/1471-213x-4-1 · Cited by 46 · see citing works

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 · see citing works
Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome
Fitzky, B. U., Witsch-Baumgartner, M., Erdel, M., Lee, J. N., Paik, Y.-K., Glossmann, H., Utermann, G., & Moebius, F. F. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.14.8181 · Cited by 384 · see citing works
3β-Hydroxysterol Δ7-reductase and the Smith–Lemli–Opitz syndrome
Correa-Cerro, L. S., & Porter, F. D. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.09.017 · Cited by 92 · see citing works
Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome
Jira, P. E., Wanders, R. J. A., Smeitink, J. A. M., de Jong, J. G. N., Wevers, R. A., Oostheim, W., Tuerlings, J. H. A. M., Hennekam, R. C. M., Sengers, R. C. A., & Waterham, H. R. (2001) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2001.6530229.x · Cited by 31 · see citing works
Self-citation
Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene
Jira, P. E., Waterham, H. R., Wanders, R. J. A., Smeitink, J. A. M., Sengers, R. C. A., & Wevers, R. A. (2003) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2003.00034.x · Cited by 92 · see citing works
Self-citation

Authors: Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., & Wanders, R. J. A.
Affiliations: Amsterdam UMC Location University of Amsterdam (NL)
University Medical Center Utrecht (NL)
Corresponding author: Waterham, Hans R.
ORCID: Waterham, Hans R.
Wijburg, Frits A.
Hennekam, Raoul C.M.
Smeitink, Jan A.M.
Wevers, Ron A.
Wanders, Ronald J.A.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 1998-08
Volume: 63
Issue: 2
Pages: 329-338
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/301982
PMC: PMC1377322
OpenAlex: W2156276761
Cited by: 296
References: 28
Citations by year: 2026: 5 · 2025: 5 · 2024: 7 · 2023: 5 · 2022: 2 · 2021: 4 · 2020: 8 · 2019: 4 · 2018: 2 · 2017: 6 · 2016: 8 · 2015: 5 · 2014: 8 · 2013: 5 · 2012: 11
FWCI: 21.62
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 5466 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
UvA-DARE (University of Amsterdam) (submittedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Pure Amsterdam UMC (submittedVersion)
Radboud Repository (Radboud University) (submittedVersion)
Radboud Repository (Radboud University) (submittedVersion, other-oa)
Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords: Smith-Lemli-Opitz syndrome, DHCR7, cholesterol biosynthesis, autosomal recessive disorder, congenital malformations, intellectual disability, facial dysmorphism, cDNA cloning, gene mapping, chromosome 11q13, point mutations, insertion mutation, heterologous expression in yeast
MeSH terms: Lamin B Receptor, Amino Acid Sequence, Base Sequence, Cells, Cultured, Cholesterol, Chromosome Mapping, Chromosomes, Human, Pair 11, Female, Fibroblasts, Humans, Male, Molecular Sequence Data, Nuclear Family, Oxidoreductases, Saccharomyces cerevisiae, Skin, Mutagenesis, Site-Directed, Open Reading Frames, Sequence Alignment, Arabidopsis, Sequence Homology, Amino Acid, Receptors, Cytoplasmic and Nuclear, Smith-Lemli-Opitz Syndrome, Oxidoreductases Acting on CH-CH Group Donors

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Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

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