Historical aspects of the Smith-Lemli-Opitz syndrome
Authors:
Vladimir Bzdúch 1; Darina Behúlová 2; Jozefína Škodová 2; Martina Skokňová 1; †libor Kozák
Authors place of work:
I. detská klinika Lekárskej fakulty Univerzity Komenského a Detskej fakultnej nemocnice, Bratislava, Slovenská republika
1; Oddelenie laboratórnej medicíny Detskej fakultnej nemocnice, Bratislava, Slovenská republika
†Centrum molekulární biologie a genové terapie FN, Brno
2
Published in the journal:
Čas. Lék. čes. 2014; 153: 36-39
Category:
History of Medicine
Summary
The new malformation syndrome was first described approximately 50 years ago in three unrelated patients in Department of Pediatrics at the University of Wisconsin, Madison, (Smith, Lemli, Opitz 1964). This syndrome was called RSH syndrome after the first 3 patients studied. First Slovak patient with phenotypic features of this new syndrome was described by professor Sršeň in 1972. In 1994 Tint from VA Medical Center, E. Orange, New Jersey analyzed plasma sterols of patient with Smith-Lemli-Opitz syndrome and found out that in addition to low plasma cholesterol level, the patient had 1000-fold increase of the plasma level of 7-dehydrocholesterol, the immediate precursor of cholesterol biosynthesis. After this biochemical discovery Smith-Lemli-Opitz syndrome became the metabolic-malformation syndrome with an exactly defined impairment of cholesterol metabolism. The first patient with biochemically proved Smith-Lemli-Opitz syndrome in Slovakia was described by Behulova et al. (1997) in cooperation with Department of Biochemistry and Medical Biotechnology, Federico II University in Naples, Italy. The three years later a screening method UV spectrometry of serum lipids for detection of 7-dehydrocholesterol was established in Department of Biochemistry, University Children´s Hospital in cooperation with the Institute of preventive and clinical medicine in Bratislava (Skodova et al.,2000). First results of molecular analysis of the 7-dehydrocholesterol reductase gene in 10 unrelated Czech and Slovak patients with Smith-Lemli-Opitz syndrome were reported by Kozak et al. (2000). The same year the first prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis was achieved (Bzduch et al., 2000). Our research activities on this topic drew good response from abroad.
Keywords:
Smith-Lemli-Opitz syndrome – RSH syndrome – disorder of cholesterol biosynthesis – history of medicine
Zdroje
1. Bzdúch V, Behúlová D. Mimoriadny objav: Smithov-Lemliho-Opitzov syndróm – porucha biosyntézy cholesterolu. Čs. Pediat. 1998; 53: 371–373.
2. Bzdúch V, Behúlová D, Kajaba I. Nový pohľad na cholesterol. Čas. Lék. čes. 200l; 140: 685–687.
3. Nowaczyk MJ, Waye JS. The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Clin Genet 2001; 59: 375–386.
4. Opitz JM, Furtado LV. The RSH/“Smith-Lemli-Opitz“ syndrome: historical footnote. Am J Med Genet Part C Semin Med Genet 2012; 160C: 242–249.
5. Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital abnormalities. J Pediatr 1964; 64: 2010–2017.
6. Pauli RM, Williams MS, Josephson KD, Tint GS. Smith-Lemli-Opitz syndrome: thirty-year follow-up of „S“ of „RSH“ syndrome. Amer J Med Genet 1997; 68: 260–262.
7. Opitz JM. RSH/SLO (Smith-Lemli-Opitz) syndrome: historical, genetic, and developmental considerations. Amer J Med Genet 1994; 50: 344–346.
8. Opitz JM, Zellweger H, Shannon WR, Ptacek LJ. The RSH syndrome. Birth Defects 1969; 5: 43–52.
9. Sršeň Š. Smith-Lemli-Opitz syndrome: report of a new case and review of the literature. Acta Pediat Acad Sci Hung 1972; 13: 301–308.
10. Sršeň Š. Diskusný príspevok k článku E. Seemanovej a M.Voříškovej „Smithuv-Lemliho-Opitzuv syndrom u kojence“ (Čs. Pediat. 1974; 29(9): 504–506). Čs. Pediat. 1975; 30: 306–308.
11. Seemanová E, Voříšková M. Smithuv-Lemliho-Opitzuv syndrom u kojence. Čs. Pediat. 1974; 29: 504–506.
12. Kofer J. Příspěvek k diferenciální diagnostice mentálně postižených dětí – dvě kazuistiky Smithova-Lemliova-Opitzova syndromu. Čs. Pediat. 1976; 31: 465–466.
13. Jüttnerová V, Balíček P. The Smith-Lemli-Opitz syndrome in a 2-months-old boy. Sborník vědeckých prací Lékařské fakulty Karlovy univerzity v Hradci Králové. 1977; 20(Suppl): 473–477.
14. Žižka J, Marešová J, Kerekeš Z, Nožička Ž, Jüttnerová V, Balíček P. Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome. Acta Pediat Scand 1983; 72: 141–143.
15. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994; 330: 107–113.
16. Natowicz MR, Evans JE. Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Amer J Med Genet 1994; 50: 364–367.
17. Irons M, Elias ER, Salen G, Tint G, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 1993; 341: 1414.
18. Opitz JM, Dela Cruz F. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. Amer J Med Genet 1994; 50: 326–328.
19. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. Markedly inhibited 7-dehydrocholesterol-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 1995; 96: 1779–1785.
20. Fitzki BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF. Mutation in the delta-7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 1998; 95: 8181–8186.
21. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. Mutation in the human sterol delta 7 reductase gene at 11q12–13 causes Smith-Lemli-Opitz syndrome. Am J Hum Genet 1998; 63: 55–62.
22. Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeiting JA, Wevers RA, Wanders RJ. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 1998; 63: 329–338.
23. Behúlová D, Bzdúch V, Véghová E, Škodová J, Corso G. Prvý pacient s biochemicky potvrdeným Smith–Lemli–Opitzovým syndrómom na Slovensku. Abstrakt. Čs. Pediat. 1997; 52(Suppl 1) : 90–91.
24. Behúlová D, Bzdúch V, Véghová E, Škodová J, Andria G. Smith--Lemli-Opitz syndrome. Abstrakt. XII. pracovní dny „Dedičné metabolické poruchy“ Brno 1997.
25. Behúlová D, Bzdúch V, Škodová J, Hálová K, Ürge O, Corso G, Dello Russo A, Nagyová A, Ponec J, Kasanická A. Nová dedičná porucha biosyntézy cholesterolu – prví biochemicky potvrdení pacienti na Slovensku. Laboratórna diagnostika 1998; 3: 114.
26. Škodová J, Behúlová D, Nagyová A, Bzdúch V, Ponec J, Kasanická A. Skríningová metóda novej dedičnej poruchy biosyntézy cholesterolu. Klinická biochemie a metabolizmus 2000; 8: 187–189.
27. Bzdúch V. 4. kolokvium o dedičných metabolických poruchách. Bratislava 25. 3. 1999. Čs. Pediat. 1999; 54: 525–526.
28. Kozák L, Francová H, Hrabincová E, Procházková D, Jüttnerová V, Bzdúch V, Šimek P. Smith-Lemli-Opitz syndrome: Molecular-genetic analysis of ten families. J Inherit Metab Dis 2000; 23: 409–412.
29. Kolejáková K, Petrovic R, Futas J, Turcani P, Durovcikova D, Chandoga J. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. Gen Physiol Biophys 2009; 28: 8–15.
30. Bzdúch V, Behúlová D, Škodová J, Nagyová A, Corso G, DelloRusso A, Benedeková M. Nová tvár Smithovho–Lemliho–Opitzovho syndrómu Čs. Pediat. 1999; 54: 406–410.
31. Bzdúch V, Behúlová D, Škodová J. Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Amer J Med Genet 2000; 90: 60.
32. Bzdúch V, Kozák L, Francová H, Behúlová D. Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. Amer J Med Genet 2000; 95: 85.
33. Behúlová D, Bzdúch V, Škodová J, Dello Russo A, Corso G, Ponec J, Kasanická A. Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis 2000; 23: 413–415.
34. Bzdúch V, Behúlová D, Kozák L. Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis 2007; 30: 269–270.
35. Skokňová M, Behúlová D, Fajkusová L, Dolníková D, Bzdúch V.Genotypic and phenotypic characterisation of 15 Slovak patients with Smith-Lemli-Opitz syndrome. Abstract. J Inherit Metab Dis 2012; 35(Suppl 1) : S133.
36. Kelley RI. Editorial: A new face for an old syndrome. Amer J Med Genet 1997; 65: 251–256.
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Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental HygienistČlánok vyšiel v časopise
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