Mutations in the human sterol Δ7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome

American Journal of Human Genetics

Volumn 63, Issue 1, 1998, Pages 55-62

  Wassif, Christopher A ^a   Maslen, Cheryl ^b,c   Kachilele Linjewile, Stivelia ^a   Lin, Don ^c   Linck, Leesa M ^c   Connor, William E ^c   Steiner, Robert D ^c   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; GENE PRODUCT; STEROID REDUCTASE;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 11Q; CONTROLLED STUDY; ENZYME STRUCTURE; GENE EXPRESSION REGULATION; GENE MAPPING; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ARABIDOPSIS THALIANA;

EID: 0032231459     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301936     Document Type: Article

References (31)

1. BLAST, http://www.ncbi.nlm.nih.gov/BLAST/
2. 24-reductases [S64014 and A43765], carboxyl-terminal portions of human and rat β-lamin receptors [L25941 and AB002466, respectively], and [AF062481])
3. Online Mendelian Inheritance in Man (OMIM), http://www .ncbi.nlm.nih.gov/Omim (for SLOS [MIM 270400])
4. Whitehead/MIT Center for Genome Research, http://www .genome.wi.mit.edu/cgi-bin/contig/rhmapper.pl (for radiation-hybrid mapping)
5. Alley TL, Gray BA, Lee S-H, Scherer SW, Tsui L-C, Tint GS, Williams CA, et al (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
6. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
7. Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389-3402
8. Berry R, Wilson H, Robinson J, Sandlin C, Tyson W, Campbell J, Porreco R, et al (1989) Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). Am J Med Genet 34:358-365
9. Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML (1987) Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28:723-731
10. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature 383:407-413
11. Cunniff 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. Am J Med Genet 68:263-269
12. Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, et al (1987) Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57
13. Dehart DB, Lanoue L, Tint GS, Sulik KK (1997) Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. Am J Med Genet 68:328-337
14. Folch J, Lees M, Sloane SG (1957) A simple method for isolation and purification of total lipids from animal tissues. J Biol Chem 226:497-509
15. Gorlin RJ, Cohen MM, Levin LS (eds) (1990) Syndromes of the head and neck. Vol 19 in: Oxford monograms on medical genetics. Oxford University Press, Oxford, pp 890-894
16. Irons M, Elias ER, Salen G, Tint GS, Batta AK (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414
17. 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
18. Lecain E, Chenivesse X, Spagnoli R, Pompon D (1996) Cloning by metabolic interference in yeast and enzymatic characterization of Arabidopsis thaliana sterol Δ7-reductase. J Biol Chem 271:10866-10873
19. Lei KJ, Gluzman Y, Pan CJ, Chou JY (1992) Immortalization of virus-free human placental cells that express tissue-specific functions. Mol Endocrinol 6:703-712
20. Lin DS, Conner WE, Walf DP, Neuringer M, Hachey DL (1993) Unique lipids of primate spermatozoa: desmosterol and docosahexaenoic acid. J Lipid Res 34:491-500
21. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the folin phenol reagent. J Biol Chem 193:265-275
22. Moebius FF, Fitzky BU, Lee JN, Paik Y-K, Glossmann H (1998) Molecular cloning and expression of the human Δ 7-sterol reductase. Proc Natl Acad Sci USA 95:1899-1902
23. Natowicz MR, Evans JE (1994) Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Am J Med Genet 50:364-367
24. Porter JA, Ekker SC, Park W-J, von Kessler DP, Young KE, Chen C-H, Ma Y, et al (1996a) Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain. Cell 86:21-34
25. Porter JA, Young KE, Beachy PA (1996b) Cholesterol modification of hedgehog signaling proteins in animal development. Science 274:255-259
26. 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
27. Scherer SW, Soder S, Duvoisin RM, Huizenga JJ, Tsui LC (1997) The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. Genomics 44:232-236
28. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, et al (1995) Markedly inhibited 7-dehydrocholesterol-Δ 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96:1779-1785
29. Smith D, Lemli L, Opitz J (1964) A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217
30. 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
31. Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, et al (1995) Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr 127:82-87