Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

American Journal of Medical Genetics

Volumn 113, Issue 4, 2002, Pages 315-319

  Andersson, Hans C ^a   Kratz, Lisa ^b   Kelley, Richard ^b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Agenesis corpus callosum; Cholesterol; Desmosterol; Microcephaly

Indexed keywords

24 DEHYDROCHOLESTEROL REDUCTASE; DESMOSTEROL; LANOSTEROL; OXIDOREDUCTASE; STEROL; UNCLASSIFIED DRUG; 3BETA HYDROXYSTEROL DELTA24 REDUCTASE; 3BETA-HYDROXYSTEROL DELTA24-REDUCTASE; CHOLESTEROL; DHCR24 PROTEIN, HUMAN; NERVE PROTEIN;

AGENESIS; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CLEFT PALATE; CLUBFOOT; CONGENITAL MALFORMATION; CORPUS CALLOSUM; DESMOSTEROLOSIS; DEVELOPMENTAL DISORDER; GROWTH RETARDATION; HUMAN; LYMPHOBLAST; MALE; MICROCEPHALY; MICROGNATHIA; PALPEBRAL FISSURE ANOMALY; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN APLASIA; STEROL METABOLISM; BLOOD; CHEMISTRY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENZYMOLOGY; FAMILY HEALTH; GENETICS; LYMPHOCYTE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHOLESTEROL; DESMOSTEROL; DEVELOPMENTAL DISABILITIES; FAMILY HEALTH; HUMANS; LIPID METABOLISM, INBORN ERRORS; LYMPHOCYTES; MALE; NERVE TISSUE PROTEINS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE;

EID: 0037114662     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.b.10873     Document Type: Article

References (17)

1. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. 1999. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am J Med Genet 82:382-384.
2. Clayton PT. 1998. Disorders of cholesterol biosynthesis. Arch Dis Child 78:185-189.
3. FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous MEM, Mills K, Winter RM, Clayton PT. 1998. Clinical phenotype of desmosterolosis. Am J Med Genet 75:145-152.
4. Gibson KM, Hoffmann G, Schwall A, Broock RL, Aramaki S, Sweetman L, Nyhan WL, Brandt IK, Wappner RS, Lehnert W. 1990. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: Differential response to lipid supplied by fetal bovine serum in tissue culture medium. J Lipid Res 31:515-521.
5. Gofflot F, Kolf-Clauw M, Clotman F, Roux C, Picard JJ. 1999. Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome. Am J Med Genet 87:207-216.
6. Grondahl C, Ottesen JL, Lessl M, Faarup P, Murray A, Gronvald FC, Hegele-Hartung C, Ahnfelt-Ronne I. 1998. Meiosis-activating sterol promotes resumption of meiosis in mouse oocytes cultured in vitro in contrast to related oxysterols. Biol Reprod 58:1297-1302.
7. Jackson SM, Ericsson J, Edwards PA. 1997. Signaling molecules derived from the cholesterol biosynthetic pathway. Sub-Cell Biochem 28:1-21.
8. 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.
9. Kelley RI. 1997. A new face for an old syndrome. Am J Med Genet 65:251-256.
10. Kelley RI. 1998. RSH/Smith-Lemli-Opitz syndrome: Mutations and metabolic morphogenesis. Am J Hum Genet 63:322-326.
11. Kelley RI. 2000. Inborn errors of cholesterol biosynthesis. Adv Pediatr 47(6):1-53.
12. Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS. 1999. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 83:213-219.
13. König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. 2000. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 90:339-346.
14. Opitz JM, de la Cruz F. 1994. Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet 50:326-338.
15. Smith DW, Lemli L, Opitz JM. 1964. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
16. 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.
17. 24-reductase cause autosomal recessive desmosterolosis. Am J Hum Genet 69:685-694.