A new compound heterozygous mutation (W17X, 436+5g→T) in the cytochrome P450c17 gene causes 17α-hydroxylase/17,20-lyase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 1, 1998, Pages 199-202

  Suzuki, Yukie ^a   Nagashima, Tomohisa ^a   Nomura, Yoko ^a   Onigata, Kazumichi ^a   Nagashima, Kanji ^a   Morikawa, Akihiro ^a  

^a GUNMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; STEROID 17ALPHA MONOOXYGENASE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; EXON; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPERTENSION; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; EXONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INTRONS; POINT MUTATION; POLYMERASE CHAIN REACTION; STEROID 17-ALPHA-HYDROXYLASE; STEROIDS;

EID: 0031768820     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.1.199     Document Type: Article

References (14)

1. Yanase T, Simpson ER, Waterman MR. 1991 17α-Hydroxylase/17,20-lyase deficiency from clinical investigation to molecular definition. Endocr Rev. 12:91-107.
2. Yanase T. 1995 17α-Hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol. 53:153-157.
3. Monno S, Ogawa H, Date T, Fujioka M, Miller WL, Kobayashi M. 1993 Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17α-hydroxylase deficiency. J Biol Chem. 268:25811-25817.
4. 489 in human cytochrome P450c17 causes severe 17α-hydroxylase deficiency. J Clin Endocrinol Metab. 77:489-493.
5. 342→Thr) in the CYP17(P450 17α) gene lead to ambiguous external genitalia in a male patient with partial combined 17 α-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. 74:667-672.
6. 440 to His in cytochromc P450c17 causes severe 17α-hydroxylase deficiency. J Clin Endocrinol Metab. 79:160-164.
7. Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR. 1988 Combined 17α-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P-450. Mol Cell Endocrinol. 59:249-253.
8. Laflamme N, Leblanc JF, Mailloux J, Faure N, Labrie F, Simard J. 1996 Mutation R96W in cytochrome P450c17 gene causes combined 17α-hydroxylase/17,20-lyase deficiency in two french canadian patients. J Clin Endocrinol Metab. 81:264-268.
9. 106→proline causes 17α-hydroxylase deficiency. J Biol Chem. 266:15992-15998.
10. Miura K, Yasuda K, Yanase T, et al. 1996 Mutation of cytochrome P450c17 gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. J Clin Endocrinol Metab. 81:3797-3801.
11. Oshiro C, Takasu N, Wakugami T, et al. 1995 Seventeen alpha-hydroxlase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. J Clin Endocrinol Metab. 80:2526-2529.
12. Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S. 1997 A 5′-splice site mutation in the cytochrome P450 steroid 17α-hydroxylase gene in 17α-hydroxylase deficiency. J Clin Endocrinol Metab. 82:1934-1938.
13. Teng H, Jorissen M, Van Poppel H, et al. 1997 Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas defens compared with nasal epithelial cells. Hum Mol Genet. 6:85-90.
14. Zielenski J, Markiewicz D, Lin SP, Huang FY, Yang-Feng TL, Tsui LC. 1995 Skipping of exon 12 as a consequence of a point mutation (1898+5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family. Clin Genet. 47:125-132.