Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

European Journal of Medical Genetics

Volumn 51, Issue 2, 2008, Pages 124-140

  Jezela Stanek, A ^a   Ciara, E ^a   Malunowicz, E M ^a   Korniszewski, L ^b   Piekutowska Abramczuk, D ^a   Popowska, E ^a   Krajewska Walasek, M ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

Author keywords

7 Dehydrocholesterol; Cholesterol; DHCR7 gene; Mild phenotype; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL;

7 DEHYDROCHOLESTEROL REDUCTASE GENE; ADOLESCENT; ANALYTIC METHOD; ARTICLE; BEHAVIOR DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; SMITH LEMLI OPITZ SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME;

EID: 40649084340     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.11.004     Document Type: Article

References (41)

1. Anderson A.J., Stephan M.J., Walker W.O., and Kelley R.I. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism. Am. J. Med. Genet. 78 5 (1998) 413-418
2. Bialer M.G., Penchaszadeh V.B., Kahn E., Libes R., Krigsman G., and Lesser M.L. Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 28 3 (1987) 723-731
3. Ciara E., Nowaczyk M., Witsch-Baumgartner M., Małunowicz E., Popowska E., Jezela-Stanek A., Piotrowicz M., Waye J., Utermann G., and Krajewska-Walasek M. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. Clin. Genet. 66 6 (2004) 517-524
4. Ciara E., Popowska E., Piekutowska-Abramczuk D., Jurkiewicz D., Borucka-Mankiewicz M., Kowalski P., Goryluk-Kozakiewicz B., Nowaczyk M.J., and Krajewska-Walasek M. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. Eur. J. Med. Genet. 49 6 (2006) 499-504
5. 7-reductase and the Smith-Lemli-Opitz syndrome. Mol. Gen. Metab. 84 (2005) 112-126
6. Cunniff C., Kratz L.E., Moser A., Natowicz M.R., and Kelley R.I. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am. J. Med. Genet. 68 3 (1997) 263-269
7. Curry C.J., Carey J.C., Holland J.S., Chopra D., Fineman R., Golabi M., Sherman S., Pagon R.A., Allanson J., Shulman S., et al. Smith-Lemli-Opitz syndrome - type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am. J. Med. Genet. 26 1 (1987) 45-57
8. 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc. Natl. Acad. Sci. U.S.A. 95 (1998) 8181-8186
9. Jira P.E., Wanders R.J., Smeitink J.A., De Jong J., Wevers R.A., Oostheim W., Tuerlings J.H., Hennekam R.C., Sengers R.C., and Waterham H.R. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. Ann. Hum. Genet. 65 (2001) 229-236
10. Jira P.E., Waterham H.R., Wanders R.J., Smeitink J.A., Sengers R.C., and Wevers R.A. Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann. Hum. Genet. 67 (2003) 269-280
11. Kelley R.I. 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 1 (1995) 45-58
12. Kelley R.L., Roessler E., Hennekam R.C., Feldman G.L., Kosaki K., Jones M.C., Palumbos J.C., and Muenke M. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?. Am. J. Med. Genet. 66 4 (1996) 478-484
13. Kelley R.I. RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Am. J. Hum. Genet. 63 2 (1998) 322-326 (Review)
14. Kelley R.I., and Hennekam R.C. The Smith-Lemli-Opitz syndrome. J. Med. Genet. 37 5 (2000) 321-335 (Review)
15. Kim E.H., and Boutwell W.C. Smith-Lemli-Opitz syndrome associated with Hirschsprung disease, 46,XY female karyotype, and total anomalous pulmonary venous drainage. J. Pediatr. 106 5 (1985) 861
16. Krakowiak P.A., Nwokoro N.A., Wassif C.A., Battaile K.P., Nnowaczyk M.J.M., Connor W.E., Maslen C., Steiner R.D., and Porter F. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assay to simplify genotyping. Am. J. Med. Genet. 94 (2000) 214-222
17. Langius F.A., Waterham H.R., Romeijn G.J., Oostheim W., de Barse M.M., Dorland L., Duran M., Beemer F.A., Wanders R.J., and Poll-The B.T. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. A. 122 1 (2003) 24-29
18. Lipson A., and Hayes A. Smith-Lemli-Opitz syndrome and Hirschsprung disease. J. Pediatr. 105 1 (1984) 177
19. Loeffler J., Trojovsky A., Casati B., Kroisel P.M., and Utermann G. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis. Am. J. Med. Genet. 95 2 (2000) 174-177
20. Moebius F.F., Fitzky B.U., Lee J.N., Paik Y.K., and Glossmann H. Molecular cloning and expression of the human delta 7-sterol reductase. Proc. Natl. Acad. Sci. U.S.A. 95 4 (1998) 1899-1902
21. Mueller C., Patel S., Irons M., Antshel K., Salen G., Tint G.S., and Bay C. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Am. J. Med. Genet. A. 123 1 (2003) 100-106
22. Nezarati M.M., Loeffler J., Yoon G., MacLaren L., Fung E., Snyder F., Utermann G., and Graham G.E. Novel mutation in the delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. Am. J. Med. Genet. 110 2 (2002) 103-108
23. Nowaczyk M.J., Whelan D.T., and Hill R.E. Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings. Am. J. Med. Genet. 78 5 (1998) 419-423
24. Nowaczyk M.J., Waye J.S., and Douketis J.D. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?. Am. J. Med. Genet. A. 140 19 (2006) 2057-2062 (Review)
25. Opitz J.M. RSH (so-called Smith-Lemli-Opitz) syndrome. Curr. Opin. Pediatr. 11 4 (1999) 353-362 (Review)
26. Patterson K., Toomey K.E., and Chandra R.S. Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J. Pediatr. 103 3 (1983) 425-427
27. Prasad C., Marles S., Prasad A.N., Nikkel S., Longstaffe S., Peabody D., Eng B., Wright S., Waye J.S., and Nowaczyk M.J. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. Am. J. Med. Genet. 108 1 (2002) 64-68
28. Ryan A.K., Bartlett K., Clayton P., Eaton S., Mills L., Donnai D., Winter R.M., and Burn J. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J. Med. Genet. 35 7 (1998) 558-565
29. Shackleton C.H., Małunowicz E.M., and Porter F.D. Steroid synthesis in 7-dehydrosterol-7-reductasae deficiency (Smith-Lemli-Opitz syndrome, SLOS). Hormone. Res. 58 52 (2002) 90-91
30. Shefer S., Salen G., Batta A.K., Honda A., Tint G.S., Irons M., Elias E.R., Chen T.C., and Holick M.F. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J. Clin. Invest. 96 4 (1995) 1779-1785
31. Smith D.W., Lemli L., and Opitz J.M. A newly recognized syndrome of multiple congenital anomalies. J. Pediatr. 64 (1964) 210-217
32. Tierney E., Nwokoro N.A., Porter F.D., Freund L.S., Ghuman J.K., and Kelley R.I. Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. 98 2 (2001) 191-200
33. Tierney E., Bukelis I., Thompson R.E., Ahmed K., Aneja A., Kratz L., and Kelley R.I. Abnormalities of cholesterol metabolism in autism spectrum disorders. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 141 6 (2006) 666-668
34. Tint G.S., Irons M., Elias E.R., Batta A.K., Frieden R., Chen T.S., and Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N. Engl. J. Med. 330 2 (1994) 107-113
35. Tint G.S., Salen G., Batta A.K., Shefer S., Irons M., Elias E.R., Abuelo D.N., Johnson V.P., Lambert M., Lutz R., et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J. Pediatr. 127 1 (1995) 82-87
36. Wassif C.A., Maslen C., Kachilele-Linjewile S., Lin D., Linck L.M., Connor W.E., Steiner R.D., and Porter F.D. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 63 1 (1998) 55-62
37. 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., and Wanders R.J. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am. J. Hum. Genet. 63 2 (1998) 329-338
38. Waterham H.R., Oostheim W., Romeijn G.J., Wanders R.J., and Hennekam R.C. Incidence and molecular mechanism of aberrant splicing owing to a G > C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. J. Med. Genet. 37 5 (2000) 387-389
39. Witsch-Baumgartner M., Fitzky B.U., Ogorelkova M., Kraft H.G., Moebius F.F., Glossmann H., Seedorf U., Gillessen-Kaesbach G., Hoffmann G.F., Clayton P., Kelley R.I., and Utermann G. Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am. J. Hum. Genet. 66 2 (2000) 402-412
40. Witsch-Baumgartner M., Clayton P., Clusellas N., Haas D., Kelley R.I., Krajewska-Walasek M., Lechner S., Rossi M., Zschocke J., and Utermann G. Identification of 14 novel mutation in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Hum. Mut. 25 4 (2005) 412-419
41. Yu H., Lee M.H., Starck L., Elias E.R., Irons M., Salen G., Patel S.B., and Tint G.S. Spectrum of delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum. Mol. Genet. 9 9 (2000) 1385-1391 Erratum in: Hum. Mol. Genet. 9(12):1903