Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ5-desaturase

American Journal of Human Genetics

Volumn 71, Issue 4, 2002, Pages 952-958

  Brunetti Pierri, Nicola ^a,d   Corso, Gaetano ^a   Rossi, Massimiliano ^a   Ferrari, Paola ^c   Balli, Fiorella ^b   Rivasi, Francesco ^a   Annunziata, Ida ^a   Ballabio, Andrea ^a   Dello Russo, Antonio ^b   Andria, Generoso ^c   Parenti, Giancarlo ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; LATHOSTEROL; LATHOSTEROL DELTA 5 DEHYDROGENASE; LATHOSTEROL DELTA-5-DEHYDROGENASE; OXIDOREDUCTASE;

ARTICLE; CASE REPORT; ENZYMOLOGY; GENETICS; HUMAN; INFANT; MENTAL DEFICIENCY; METABOLISM; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

ABNORMALITIES, MULTIPLE; CHOLESTEROL; HUMANS; INFANT; MENTAL RETARDATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SYNDROME;

EID: 19044379648     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342668     Document Type: Article

References (28)

1. Arthington B, Bennett LG, Skatrud PL, Guynn CJ, Barbuch RJ, Ulbright CE, Bard M (1991) Cloning, disruption and sequence of the gene encoding yeast C-5 sterol desaturase. Gene 102: 39-44
2. 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 22:291-294
3. Corso G, Rossi M, De Brasi D, Rossi I, Dello Russo A (2002) Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatographymass spectrometry-selected ion monitoring. J Chromatogr B Analyt Technol Biomed Life Sci 766:365-370
4. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF (1998) Mutations in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sei USA 95: 8181-8186
5. 7-sterol-C-5-desaturase by functional complementation of a defective yeast mutant. Plant J 9:391-398
6. Geber A, Hitchcock CA, Swartz JE, Pullen FS, Marsden KE, Kwon-Chung KJ, Bennett JE (1995) Deletion of the Candida glabrata ERG3 and ERG11 genes: effect on cell viability, cell growth, sterol composition, and antifungal susceptibility. Antimicrob Agents Chemother 39:2708-2717
7. Honda A, Tint GS, Salen G, Batta AK, Chen T, Shefer S (1995) Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 36:1595-1601
8. Irons M, Elias ER, Salen G, Tint GS, Batta A (1993) Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414
9. 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. _ (1998) RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Am J Hum Genet 63:322-326
11. _ (2000) Inborn errors of cholesterol biosynthesis. Adv Pediatr 47:1-53
12. Kelley RI, Hennekam RCM (2000) The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335
13. Kelley RI, Kratz LE, Rivka LG, Netzloff MI, Wolf LM, Jabs EW (2002) Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet 110:95-102
14. Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS (1999) Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 83:213-219
15. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH (2000) Mutations in the NSDHL gene, encoding a 3-β-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 90:339-346
16. Krakowiak PA, Wassif CA, Kratz L, Vied DA, Kelley RI, Porter RD (2001) Lathosterol oxidase disruption: a new inborn error of cholesterol biosynthesis. Am J Hum Genet Suppl 69:190
17. Kyte J, Doolittle RF (1982) A simple method for displaying the hydropathic character of a protein. J Mol Biol 157:105-132
18. Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y (1996) Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase. Cytogenet Cell Genet 74:252-254
19. Miyazaki Y, Geber A, Miyazaki H, Falconer D, Parkinson T, Hitchcock C, Grimberg B, Nyswaner K, Bennett JE (1999) Cloning, sequencing, expression and allelic sequence diversity of ERG3 (C-5 sterol desaturase gene) in Candida albicans. Gene 236:43-51
20. Nishi S, Nishino H, Ishibashi T (2000) cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. Biochim Biophys Acta 1490:106-108
21. Opitz JM (1999) RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr 11:353-362
22. Shanklin J, Whittle E, Fox BG (1994) Eight histidine residues are catalytically essential in a membrane-associated iron enzyme, stearoyl-CoA desaturase, and are conserved in alkane hydroxylase and xylene monooxygenase. Biochemistry 33: 12787-12794
23. Sugawara T, Fujimoto Y, Ishibashi T (2001) Molecular cloning and structural analysis of human sterol C5 desaturase. Biochim Biophys Acta 1533:277-284
24. 7-sterol-C5(6)-desaturase studied by site-directed mutagenesis. Biochemistry 39:701-711
25. Villavivencio EH, Walterhouse DO, lannaccone P (2000) The Sonic hedgehog-Patched-Gli pathway in human development and disease. Am J Hum Genet 67:1047-1054
26. 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62
27. 24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet 69:685-694
28. Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ (1998) Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63:329-338