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MeSH Review

Smith-Lemli-Opitz Syndrome

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Disease relevance of Smith-Lemli-Opitz Syndrome


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Chemical compound and disease context of Smith-Lemli-Opitz Syndrome


Biological context of Smith-Lemli-Opitz Syndrome


Anatomical context of Smith-Lemli-Opitz Syndrome


Gene context of Smith-Lemli-Opitz Syndrome


Analytical, diagnostic and therapeutic context of Smith-Lemli-Opitz Syndrome


  1. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. Verloes, A., Aymé, S., Gambarelli, D., Gonzales, M., Le Merrer, M., Mulliez, N., Philip, N., Roume, J. J. Med. Genet. (1991) [Pubmed]
  2. Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-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. J. Lipid Res. (1999) [Pubmed]
  3. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Kelley, R.L., Roessler, E., Hennekam, R.C., Feldman, G.L., Kosaki, K., Jones, M.C., Palumbos, J.C., Muenke, M. Am. J. Med. Genet. (1996) [Pubmed]
  4. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Andersson, H.C., Frentz, J., Martínez, J.E., Tuck-Muller, C.M., Bellizaire, J. Am. J. Med. Genet. (1999) [Pubmed]
  5. Fatal adenovirus type 7b infection in a child with Smith-Lemli-Opitz syndrome. Beby-Defaux, A., Maille, L., Chabot, S., Nassimi, A., Oriot, D., Agius, G. J. Med. Virol. (2001) [Pubmed]
  6. 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. J. Lipid Res. (2000) [Pubmed]
  7. 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. Nat. Genet. (2003) [Pubmed]
  8. 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. N. Engl. J. Med. (1994) [Pubmed]
  9. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. Fitzky, B.U., Moebius, F.F., Asaoka, H., Waage-Baudet, H., Xu, L., Xu, G., Maeda, N., Kluckman, K., Hiller, S., Yu, H., Batta, A.K., Shefer, S., Chen, T., Salen, G., Sulik, K., Simoni, R.D., Ness, G.C., Glossmann, H., Patel, S.B., Tint, G.S. J. Clin. Invest. (2001) [Pubmed]
  10. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Waterham, H.R., Wijburg, F.A., Hennekam, R.C., Vreken, P., Poll-The, B.T., Dorland, L., Duran, M., Jira, P.E., Smeitink, J.A., Wevers, R.A., Wanders, R.J. Am. J. Hum. Genet. (1998) [Pubmed]
  11. Molecular cloning and expression of the human delta7-sterol reductase. Moebius, F.F., Fitzky, B.U., Lee, J.N., Paik, Y.K., Glossmann, H. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  12. 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. Hum. Mol. Genet. (2006) [Pubmed]
  13. Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism. Fitzky, B.U., Glossmann, H., Utermann, G., Moebius, F.F. Curr. Opin. Lipidol. (1999) [Pubmed]
  14. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. Batta, A.K., Tint, G.S., Shefer, S., Abuelo, D., Salen, G. J. Lipid Res. (1995) [Pubmed]
  15. A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. Johnson, D.W., ten Brink, H.J., Jakobs, C. J. Lipid Res. (2001) [Pubmed]
  16. Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling. Gofflot, F., Hars, C., Illien, F., Chevy, F., Wolf, C., Picard, J.J., Roux, C. Hum. Mol. Genet. (2003) [Pubmed]
  17. Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. Honda, A., Tint, G.S., Salen, G., Batta, A.K., Chen, T.S., Shefer, S. J. Lipid Res. (1995) [Pubmed]
  18. Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. Lin, D.S., Steiner, R.D., Flavell, D.P., Connor, W.E. Pediatr. Res. (2005) [Pubmed]
  19. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). Mills, K., Mandel, H., Montemagno, R., Soothill, P., Gershoni-Baruch, R., Clayton, P.T. Pediatr. Res. (1996) [Pubmed]
  20. Maternal cholesterol in fetal development: transport of cholesterol from the maternal to the fetal circulation. Woollett, L.A. Am. J. Clin. Nutr. (2005) [Pubmed]
  21. 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. J. Lipid Res. (1996) [Pubmed]
  22. Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome. Sattler, W., Leis, H.J., Kostner, G.M., Malle, E. Rapid Commun. Mass Spectrom. (1995) [Pubmed]
  23. Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. van Rooij, A., Nijenhuis, A.A., Wijburg, F.A., Schutgens, R.B. J. Inherit. Metab. Dis. (1997) [Pubmed]
  24. 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., Menzel, H.J., Seedorf, U., Burn, J., Gillessen-Kaesbach, G., Hoffmann, G.F., Fitzky, B.U., Mundy, H., Clayton, P., Kelley, R.I., Krajewska-Walasek, M., Utermann, G. Eur. J. Hum. Genet. (2001) [Pubmed]
  25. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. Witsch-Baumgartner, M., Gruber, M., Kraft, H.G., Rossi, M., Clayton, P., Giros, M., Haas, D., Kelley, R.I., Krajewska-Walasek, M., Utermann, G. J. Med. Genet. (2004) [Pubmed]
  26. 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., Tint, G.S., Patel, S.B. BMC Dev. Biol. (2004) [Pubmed]
  27. Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. Bae, S.H., Lee, J.N., Fitzky, B.U., Seong, J., Paik, Y.K. J. Biol. Chem. (1999) [Pubmed]
  28. Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation. Nowaczyk, M.J., Whelan, D.T., Heshka, T.W., Hill, R.E. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne. (1999) [Pubmed]
  29. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Kelley, R.I. Clin. Chim. Acta (1995) [Pubmed]
  30. Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Shinawi, M., Szabo, S., Popek, E., Wassif, C.A., Porter, F.D., Potocki, L. Am. J. Med. Genet. A (2005) [Pubmed]
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