Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 8, 2002, Pages 3808-3813

  Katsumata, Noriyuki ^a   Ohtake, Masatoshi ^b   Hojo, Toru ^c   Ogawa, Eishin ^d   Hara, Takayuki ^e   Sato, Naoko ^a   Tanaka, Toshiaki ^b  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b SENDAI CITY HOSPITAL   (Japan)

^c Watari Hospital   (Japan)

^d TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e NAKAMURA GAKUEN UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CHOLESTEROL; CORTICOSTEROID; CYTOCHROME P450; CYTOCHROME P450 11A; PREGNENOLONE; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HORMONE SYNTHESIS; HUMAN; MITOCHONDRION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0036348468     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.8.8763     Document Type: Article

References (30)

1. Regulation of the acute production of steroids in steroidogenic cells
2. Evidence for deficiency 20α-cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia
3. Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease)
4. Normal genes for cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia
5. No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia
6. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
7. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
8. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
9. Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme
10. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency
11. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
12. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
13. A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites
14. Genomic sequence of the DAX1 gene: An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
15. A general method of in vitro preparation and specific mutageneis of DNA fragments: Study of protein and DNA interaction
16. 3 in 1α-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
17. A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia
18. Gene structure of human cytochrome P-450(SCC), cholesterol desmolase
19. Splicing of messenger RNA precursors
20. Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta
21. Molecular cloning and nucleotide sequence of cDNA for mRNA of mitochondrial cytochrome P-450(SCC) of bovine adrenal cortex
22. Molecular cloning and nucleotide sequences of cDNA clones of sheep and goat adrenocortical cytochromes P450scc (CYP11A1)
23. Cyclic AMP-dependent and -independent regulation of cholesterol side chain cleavage cytochrome P-450 (P-450scc) in rat ovarian granulose cells and corpora lutea. cDNA and deduced amino acid sequence of rat P-450scc
24. Rainbow trout ovarian cholesterol side-chain cleavage cytochrome P450 (P450scc). cDNA cloning and mRNA expression during oogenesis
25. Isolation of the putative cDNA encoding cholesterol side chain cleavage cytochrome P450 (CYP11A) of the southern stingray (Dasyatis americana)
26. Why no body has P450scc (20, 22 desmolase) deficiency
27. A new insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency
28. 17α-Hydroxylase/17,20-lyase deficiency: From clinical investigation to molecular definition
29. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
30. Disorders of steroid 11β-hydroxylase isozymes