Clinical phenotype of desmosterolosis

American Journal of Medical Genetics

Volumn 75, Issue 2, 1998, Pages 145-152

  FitzPatrick, David R ^a   Keeling, Jean W ^b   Evans, Margaret J ^b   Kan, Alex E ^c   Bell, Jeanne E ^d   Porteous, Mary E M ^a   Mills, Kevin ^e   Winter, Robin M ^e   Clayton, Peter T ^e  

^a WGH   (United Kingdom)

^b RHSC   (United Kingdom)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Autosomal recessive; Cholesterol biosynthesis; Chromosome 20; Congenital malformations; Desmosterol; Raine syndrome

Indexed keywords

DESMOSTEROL;

ARTICLE; CASE REPORT; CHOLESTEROL SYNTHESIS; CLEFT PALATE; FEMALE; GENITAL MALFORMATION; HUMAN; MACROCEPHALY; MULTIPLE MALFORMATION SYNDROME; NEWBORN; NOSE MALFORMATION; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; VEIN MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; CHOLESTEROL; DESMOSTEROL; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGED; PHENOTYPE; SYNDROME; TISSUE DISTRIBUTION;

EID: 0031983989     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S     Document Type: Article

References (22)

1. Al Mane K, Coates RK, McDonald P (1996): Intracranial calcification in Raine syndrome. Pediatr Radiol 26:55-58.
2. Ashraf J, Feix JB, Butterfield DA (1984): Membrane fluidity and myotonia: Effects of cholesterol and desmosterol on erythrocyte-membrane fluidity in rats with 20,25-diazacholesterol-induced myotonia and on phospholipid liposomes. Biosci Rep 4:115-120.
3. Awano M, Kawaguchi A, Morisaki M, Mohri H (1989): Identification of cholesta-7,24-dien-3-beta-ol and desmosterol in hamster cauda epididymal spermatozoa. Lipids 24:662-664.
4. Bourre JM, Clement M, Gerard D, Chaudiere J (1989): Alterations of cholesterol-synthesis precursors (7-dehydrocholesterol, 7-dehydrodesmosterol, desmosterol) in dysmyelinating neurological mutant mouse (quaking, shiverer and trembler) in the PNS and the CNS. Biochim Biophys Acta 1004:387-390.
5. Bretscher MS, Munro S (1993): Cholesterol and the golgi apparatus. Science 261:1280-1281.
6. +-atpase in myotonia induced by 20-diazacholesterol,25-diazacholesterol. Exp Neurol 77:578-589.
7. Chalikian DM, Barchi RL (1982b): Sarcolemmal desmosterol accumulation and membrane physical-properties in 20,25-diazacholesterol myotonia. Muscle Nerve 5:118-124.
8. Croce CM, Kieba I, Koprowski H, Molino M, Rothblat GH (1974): Restoration of the conversion of desmosterol to cholesterol in L- cells after hybridization with human fibroblasts. Proc Natl Acad Sci USA 71:110-113.
9. Dennick RG, Dean PDG, Abramowich DA (1973): Desmosterol levels in the foetal brain: A reassessment. J Neuroch 20:1293-1294.
10. Honda A, Tint GS, Salen G, Batta AK, Chen TS, 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.
11. Kan AE, Kozlowski K (1992): New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 43:860-864.
12. Kingston HM, Freeman JS, Hall CM (1991): A new lethal sclerosing bone dysplasia. Skeletal Radiol 20:117-119.
13. Lacombe D, Battin J (1993): Gonadal-function in Smith-Lemli-Opitz syndrome. Am J Med Genet 45:119.
14. Legault Y, Bouthillier M, Bleau G, Chapdelaine A, Roberts KD (1979): The sterol and sterol sulphate of the male hamster reproductive tract. Biol Reprod 20:1213-1219.
15. Lin DS, Connor WE, Wolf DP, Neuringer M, Hachey DL (1993): Unique lipids of primate spermatozoa: Desmosterol and docosahexaenoic acid. J Lipid Res 34:491-499.
16. Panini SR, Gupta A, Sexton RC, Parish EJ, Rudney H (1989): Regulation of sterol biosynthesis and of 3-hydroxy-3-methylglutaryl-CoA reductase activity in cultured cells by progesterone. J Biol Chem 262:14435-14440.
17. Porter JA, Young KE, Beachy PA (1996): Cholesterol modification of hedgehog signalling proteins in animal development. Science 274:255-259.
18. Pratt HPM, Keith J, Chakraborty J (1980): Membrane sterols and the development of the preimplantation mouse embryo. J Embryol Exp Morphol 60:303-319.
19. Raine J, Winter RM, Davey A, Tucker SM (1989): Unknown syndrome: Microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft-palate, low set ears, and osteosclerosis. J Med Genet 26:786-788.
20. Roux C (1964) Action teratogene du triparanol chez L'animal. Arch Franc Pediatr 21:451-464.
21. Schroepfer GJ (1982) Sterol biosynthesis. Annu Rev Biochem 51:555-585.
22. 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.