Smith-Lemli-Opitz syndrome: Deficient Δ7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 432-436

  Wanders, R J A ^a,d   Romeijn, G J ^a   Wijburg, F ^a   Hennekam, R C M ^a   De Jong, J ^b   Wevers, R A ^b   Dacremont, G ^c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DELTA7 REDUCTASE; LATHOSTEROL; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

BRAIN; CASE REPORT; CATARACT; CHOLESTEROL SYNTHESIS; CHORION VILLUS; CONFERENCE PAPER; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FACE DYSMORPHIA; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; LIMB MALFORMATION; LIVER MICROSOME; MALE; MENTAL DEFICIENCY; MICROGNATHIA; MYELINATION; NEWBORN; PERIPHERAL NERVE; PRENATAL DIAGNOSIS; PTOSIS; SKIN FIBROBLAST; SMITH LEMLI OPITZ SYNDROME;

CELL LINE; CELLS, CULTURED; CHORIONIC VILLI; DEHYDROCHOLESTEROLS; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MALE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SKIN; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0030759323     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005371104822     Document Type: Conference Paper

References (10)

1. 7-reductase, on cholesterol biosynthesis in primary rat hepatocytes. Biochem Pharmacol 35: 911-916.
2. Honda A, Tint GS, Batta AK, Chen TS, Shafer 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.
3. Irons M, Elias ER, Tint GS, Batta AK (1993) Defective cholesterol biosynthesis in the Smith-Lemli -Opitz syndrome. Lancet 341: 1414.
4. Lund E, Starck L, Venizelos N (1996) Detection of defective 3β-hydroxycholesterol reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome. J Inher Metab Dis 19: 59-64.
5. Malle E, Oetl K, Sattler W, et al (1995) Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin. Eur J Clin Invest 25: 59-67.
6. 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.
7. Pill J, Schmidt FH, Stegmeier KH, Witte EC (1985) Effects of BM 15.766 on serum lipids in rats. Horm Metab Res 17: 543-544.
8. 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96: 1779-1785.
9. Smith DW, Lemli L, Opitz (1964) A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64: 210-217.
10. Tint GS, Irons M, Elias ER, et al (1994) Defective cholesterol biosynthesis associated with the Smith -Lemli-Opitz syndrome. N Engl J Med 330: 107-113.