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A new face for an old syndrome

1997; Wiley; Volume: 68; Issue: 3 Linguagem: Inglês

10.1002/(sici)1096-8628(19970131)68

1096-8628

Richard I. Kelley,

RNA modifications and cancer

American Journal of Medical GeneticsVolume 68, Issue 3 p. 251-256 A new face for an old syndrome Richard I. Kelley, Corresponding Author Richard I. Kelley Division of Neurogenetics, Kennedy Krieger Institute, and Johns Hopkins University, Baltimore, MarylandKennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205Search for more papers by this author Richard I. Kelley, Corresponding Author Richard I. Kelley Division of Neurogenetics, Kennedy Krieger Institute, and Johns Hopkins University, Baltimore, MarylandKennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205Search for more papers by this author First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-PCitations: 59AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Abuelo DN (1997): A comparison of psychomotor development in early-treated and later-treated sibs with Smith-Lemli-Opitz syndrome (Abstr). Am J Med Genet 68: 338–341. Google Scholar Abuelo DN, Tint GS, Batta A, Shefer S, Salen G, Kelley RI (1995): Prenatal detection of the cholesterol synthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet 56: 281–285. 10.1002/ajmg.1320560309 CASPubMedWeb of Science®Google Scholar Alley TL, Gray BA, Lee S-H, Scherer SW, Tsui L-C, Tint SG, Williams CA, Zori R, Wallace MR (1995): Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet 56: 1411–1416. CASPubMedWeb of Science®Google Scholar Alley TL, Scherer SW, Huizenga JJ, Tsui L-P, Wallace MR (1997): Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20)(q32.1;q13.2). Am J Med Genet 68: 279–281. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-H CASPubMedWeb of Science®Google Scholar Andresen BS, Bross P, Jensen TG, Knudsen I, Winter V, Kolvraa S, Bolund L, Gregersen N (1995): Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency. Scand J Clin Lab Invest [Suppl] 220: 9–25. CASPubMedGoogle Scholar Barbu V, Roux C, Lambert D, Dupuis R, Gardette J, Maziere JC, Maziere C, Elefant E, Polonovski J (1988): Cholesterol prevents the teratogenic action of AY 9944: Importance of the timing of cholesterol supplementation to rats. J Nutr 118: 774–779. CASPubMedWeb of Science®Google Scholar Chasalow FI, Blethen SL, Taysi K (1985): Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. Steroids 46: 827–843. 10.1016/0039-128X(85)90032-7 CASPubMedWeb of Science®Google Scholar Cormier-Daire V, Wolf C, Le Merrer M, Nivelon A, Bonneau D, Journel H, Fellmann F, Munnich A, Roux C (1997): Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (Abstr). Am J Med Genet 68: 338–341. Google Scholar Cunniff C, Kelley RI, Kratz LE, Moser AE, Natowicz MR (1997): The clinical and biochemical spectrum of patients with Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68: 263–269. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-N PubMedGoogle Scholar Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke N, Ives E, Hall BD (1987): Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26: 45–57. 10.1002/ajmg.1320260110 CASPubMedGoogle Scholar DeHart DB, Lanoue L, Tint GS, Sulik KK (1997): A rodent model of Smith-Lemli-Opitz syndrome: BM 15.766 induced teratogenesis (Abstr). Am J Med Genet 68: 338–341. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-V Google Scholar Elias ER, Irons MB, Hurley AB, Tint GS, Salen G (1997): Clinical effects of cholesterol supplementation in six patients with Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet 68: 305–310. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-X PubMedWeb of Science®Google Scholar Faes F, Vercruysse ELJ, Dacremont GAA, De Paepe AMJF, Leroy JG (1997): Autopsy diagnosis of Smith-Lemli-Opitz syndrome (Abstr). Am J Med Genet 68: 338–341. Google Scholar Garrod AE (1908): Inborn errors of metabolism (Croonian Lectures). Lancet 2: 1, 73, 142, 214. 10.1016/S0140-6736(01)78482-6 CASWeb of Science®Google Scholar Hoefnagel D, Wurster D, Pomeroy J, Benz R (1969): The Smith-Lemli-Opitz syndrome in an adult male. J Ment Defic Res 13: 249–257. 10.1111/j.1365-2788.1969.tb01089.x CASPubMedWeb of Science®Google Scholar Honda A, Tint GS, Salen G, Kelley RI, Honda M, Batta AK, Chen TS, Shefer S (1997): Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: Diagnosis of a biochemically atypical case of the syndrome. Am J Med Genet 68: 282–287. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-O CASPubMedWeb of Science®Google Scholar Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341: 1414. 10.1016/0140-6736(93)90983-N CASPubMedWeb of Science®Google Scholar Irons M, Elias ER, Abuelo D, Tint GS, Salen G (1995): Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect. Int Pediatr 10: 28–32. Google Scholar Jeanty P, Delbeke D, Lemli L, Dorchy H (1977): Smith-Lemli-Opitz syndrome without failure to thrive. Acta Pediatr Belg 30: 27–29. Google Scholar Johnson VP (1975): Smith-Lemli-Opitz syndrome: Review and report of two affected siblings. Z Kinderheilkd 119: 221–234. 10.1007/BF00443506 CASPubMedWeb of Science®Google Scholar Kelley RI (1995): Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid, and cultured skin fibroblasts. Clin Chim Acta 236: 45–58. 10.1016/0009-8981(95)06038-4 CASPubMedWeb of Science®Google Scholar Lowry RB, Yong SL (1980): Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet 5: 137–143. 10.1002/ajmg.1320050205 CASPubMedWeb of Science®Google Scholar McKeever PA, Young ID (1990): Smith-Lemli-Opitz syndrome II: A disorder of the fetal adrenals? J Med Genet 27: 465–466. 10.1136/jmg.27.7.465 CASPubMedWeb of Science®Google Scholar Muenke M, Hennekam RCM, Kelley RI (1994): Holoprosencephaly as a manifestation in Smith-Lemli-Opitz syndrome. Am J Hum Genet 55: 36. Google Scholar Natowicz MR, Evans JE (1994): Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Am J Med Genet 50: 364–367. 10.1002/ajmg.1320500413 CASPubMedWeb of Science®Google Scholar Ness GC, Lopez D, Borrego O, Gilbert-Barness E (1997): Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels. Am J Med Genet 68: 294–299. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-M CASPubMedWeb of Science®Google Scholar Nwokoro NA, Mulvihill JJ (1997): Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet 68: 315–321. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-W PubMedWeb of Science®Google Scholar Oostra RJ, Baljet B, Hennekam RCM (1997): Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen. Am J Med Genet 68: 257–259. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-J CASPubMedWeb of Science®Google Scholar Opitz JM, de la Cruz F (1994): Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference. Am J Med Genet 50: 326–338. 10.1002/ajmg.1320500406 PubMedWeb of Science®Google Scholar Opitz JM, Zellweger H, Shannon WR, Ptacek LJ (1969): The RSH syndrome. In D Bergsma (ed): " The First Conference on the Clinical Delineation of Birth Defects. Part II: Malformation Syndromes". New York: The National Foundation-March of Dimes, Google Scholar Birth Defects: Original Article Series V(2), pp. 43–52. Google Scholar Pankau R, Partsch CJ, Funda J, Sippell WG (1992): Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. Am J Med Genet 43: 513–516. 10.1002/ajmg.1320430303 CASPubMedWeb of Science®Google Scholar Rossiter JP, Hofman KJ, Kelley RI (1995): Smith-Lemli-Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid. Am J Med Genet 56: 272–275. 10.1002/ajmg.1320560307 CASPubMedWeb of Science®Google Scholar Roux C, Aubry MM (1966): Action tératogène chez le rat d'un inhibiteur de la synthèse du cholesterol, le AY 9944. C R Soc Biol (Paris) 160: 1353–1357. CASPubMedWeb of Science®Google Scholar Roux C, Dupuis R, Horvath C, Giroud A (1979): Interpretation of isolated agenesis of the pituitary. Teratology 19: 39–43. 10.1002/tera.1420190107 CASPubMedWeb of Science®Google Scholar Roux C, Dupuis R, Horvath C, Talbot JN (1980): Teratogenic effect of an inhibitor of cholesterol synthesis (AY 9944) in rats: Correlation with maternal cholesterolemia. J Nutr 110: 2310–2312. CASPubMedWeb of Science®Google Scholar Seedorf U, Fobker M, Voss R, Meyer K, Kannenberg F, Meschede D, Ullrich K, Horst J, Benninghoven A, Assmann G (1995): Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass spectrometry. Clin Chem 41: 548–552. CASPubMedWeb of Science®Google Scholar Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF (1995): Markedly inhibited 7-dehydrocholesterol-Δ7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96: 1779–1785. 10.1172/JCI118223 CASPubMedWeb of Science®Google Scholar Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107–113. 10.1056/NEJM199401133300205 CASPubMedWeb of Science®Google Scholar Tint GS, Honda A, Honda M, Batta AK, Salen G, Chen TS, Xu G, Shefer S (1997): 7-dehydrocholesterol and cholesterol biosynthesis in cultured cells (abstract). Am J Med Genet 68: 338–341. Google Scholar Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA (1994): Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene. Am J Med Genet 50: 368–374. 10.1002/ajmg.1320500414 CASPubMedWeb of Science®Google Scholar Xu G, Salen G, Shefer S, Ness GC, Chen TS, Zhao Z, Tint GS (1995): Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. J Clin Invest 95: 76–81. 10.1172/JCI117678 CASPubMedWeb of Science®Google Scholar Zimmerman PA, Hercules DM, Naylor EW (1997): 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 68: 300–304. 10.1002/(SICI)1096-8628(19970131)68:3 3.0.CO;2-X CASPubMedWeb of Science®Google Scholar Citing Literature Volume68, Issue331 January 1997Pages 251-256 ReferencesRelatedInformation