Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome

European Journal of Pediatrics

Volumn 172, Issue 5, 2013, Pages 623-630

  Oláh, Anna V ^a   Szabó, Gabriella P ^b   Varga, József ^a   Balogh, Lídia ^c   Csábi, Györgyi ^d   Csákváry, Violetta ^e   Erwa, Wolfgang ^f   Balogh, István ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b UNIVERSITY OF DEBRECEN   (Hungary)

^c SEMMELWEIS UNIVERSITY   (Hungary)

^d UNIVERSITY OF PÉCS   (Hungary)

^e Markusovszky Teaching Hospital   (Hungary)

^f MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

7 Dehydrocholesterol; Cholesterol; Lipoprotein electrophoresis; Liver function; Smith Lemli Opitz syndrome; Statin

Indexed keywords

7 DEHYDROCHOLESTEROL; ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; BIOLOGICAL MARKER; CREATINE KINASE; GAMMA GLUTAMYLTRANSFERASE; HIGH DENSITY LIPOPROTEIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LACTATE DEHYDROGENASE; SIMVASTATIN;

ADOLESCENT; ADULT; ANTHROPOMETRIC PARAMETERS; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SUBSTITUTION; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; INFANT; LIFE EXPECTANCY; LIVER FUNCTION; MALE; MORTALITY; ONSET AGE; PRENATAL SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME; SUBSTITUTION THERAPY;

ADOLESCENT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DEHYDROCHOLESTEROLS; FEMALE; HUMANS; HUNGARY; INFANT; LIPOPROTEINS, HDL; LIVER FUNCTION TESTS; MALE; SEVERITY OF ILLNESS INDEX; SMITH-LEMLI-OPITZ SYNDROME;

EID: 84876693970     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1925-z     Document Type: Article

References (42)

1. Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner É, Szabó L, Csákváry V, Oláh AV (2012) Mutational spectrum of Smith-Lemli-Opitz syndrome patients in Hungary. Mol Syndromol 3:215-222
2. Bzduch V (2000) Incidence of Smith-Lemli-Opitz syndrome in Slovakia. Am J Med Genet 90:260
3. Cunnif C, Kratz LE, Moser A, Natowicz MR, Kelley RI (1997) Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263-269
4. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF (1998) Mutations in the delta 7-sterol reductase gene in patient with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95:8181-8186
5. Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P (2007) Effect of cholesterol and simvastatin treatment in patient with Smith-Lemli-Opitz syndrome. J Inherit Met Dis 30:375-387
6. Honda A, Batta AK, Salen G, Tint GS, Chen T, Shefer S (1997) Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Am J Med Genet 68:288-293
7. Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 34-1:1414
8. Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA (2000) Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res 41:1339-1346
9. Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oos-theim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR (2001) Nowel mutations in the 7-dehidrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. Ann Hum Genet 65:229-236
10. Kelley RI (1995) Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrophotometry of 7-dehidrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236:45-58
11. Kelley RI (1997) Editioral: a new face for an old syndrome. Am J Med Genet 65:251-256
12. Kelley RI, Hennekam RCM (2001) Smith-Lemli-Opitz syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease. Mc Graw-Hill, New York, pp 6183-6201
13. Kelley RI, Hennekam RCM (2000) The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335
14. Kratz LE, Kelley RI (1999) Prenatal diagnosis of the RSH/Smith-Lemli- Opitz syndrome. Am J Med Genet 82:376-381
15. Mills K, Mandel H, Montemagno R, Soothill P, Gershoni-Baruch R, Clayton PT (1996) First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency). Pediatr Res 39:816-819
16. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (1998) Molecular cloning and expression of the human Δ7-sterol reduc-tase. Proc Natl Acad Sci 95:1899-1902
17. Nowaczyk MJM, McCaughey D, Whelan DT, Porter FD (2001) Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Am J Med Genet 102:18-20
18. 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
19. Opitz JM (1999) RHD (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr 11:353-362
20. Palomaki GE, Bradley LA, Knight GJ, Craig WY, Haddow JE (2002) Assingning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. J Med Screen 9:43-44
21. Porter FD (2008) Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Human Genet 16:535-541
22. Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J (1998) Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet 35:558-565
23. Sharp P, Haan E, Fletcher JM, Khong TY, Carey WF (1997) Firsttrimester diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 17:355-361
24. Shefer S, Salen G, Honda A, Batta A, Hauser S, Tint GS, Honda M, Chen T, Holick MF, Nguyen LB (1997) Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts. Metabolism 46:844-850
25. Sikora DM, Ruggiero M, Petit-Kekel K, Merkens LS, Connor WE, Steiner RD (2004) Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr 144:783-791
26. Smith DW, Lemli L, Opitz JM (1964) A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217
27. Stanek AJ, Ciara E, Malunovicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M (2008) Mild Smith-Lemli-Opitz syndrome. Eur J Med Gen 51:124-140
28. Starck L, Lovgren-Sandblom A, Bjorkhem I (2002) Simvastatin treatment in the SLO syndrome: a safe approach? Am J Med Genet 113:183-189
29. Starck L, Lovgren-Sandblom A, Bjorkhem I (2002) Cholesterol treatment forever? The first Scandinavian trial of cholesterol supplementation in the cholesterol-sythesis defect Smith-Lemli-Opitz syndrome. J Intern Med 252:314-321
30. Szabó L, Erwa W, Soroncz M (2002) Metabolic background of the Smith-Lemli-Opitz (genito-facio-digital) syndrome. Gyermek- gyógyászat 53:695-702
31. Szabó GP, Oláh AV, Kozák L, Balogh E, Nagy A, Blahakova I, Oláh É (2010) A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. Eur J Pediatr 169:121-123
32. Tierney E, Conley SK, Goodwin H, Porter FD (2010) Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. Am J Med Genet 152A:91-95
33. Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R (1995) Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr 127:82-87
34. Ullrich K, Koch HG, Meschede D (1996) Smith-Lemli-Opitz syndrome; treatment with cholesterol and bile acids. Neuropediat-rics 27:111-112
35. Wassif CA, Maslen C, Kachiele-Linjewile S (1998) Mutation in the human sterol delta-7 reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62
36. Waterham HR, Wijburg FA, Hennekam RC (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63:329-338
37. Waterham HR, Oostheim W, Romeijn GJ (2000) Incidence and molecular mechanism of abberant spicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. J Med Genet 37:387-389
38. Waterham HR (2002) Inherited disorders of cholesterol biosynthesis. Clin Genet 61:393-403
39. Wittsch-Baumgartner M, Loffler J, Utermann G (2001) Mutations in the human DHCR7 gene. Hum Mutat 17:172-182
40. Witsch-Baumgartner M, Loffler J, Menzel HJ (2001) Frequency gradients of DHCR7 mutations in patient with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet 9:45-50
41. Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G (2000) Muta-tional spectrum in the 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 66:402-412
42. Xu L, Davis TA, Porter NA (2009) Rate constants for peroxidation of polyunsaturated fatty acids and sterols in solution and in liposomes. J Am Chem Soc 131:13037-13044