A novel compound heterozygous mutation in the CYP17 (P450 17α-hydroxylase) gene leading to 17α-hydroxylase/17,20-lyase deficiency

Metabolism: Clinical and Experimental

Volumn 52, Issue 4, 2003, Pages 488-492

  Hahm, Jong Ryeal ^a,b,c   Kim, Deok Ryong ^a,b,c   Jeong, Dong Kee ^a,b,c   Chung, Jae Hoon ^a,b,c   Lee, Myung Shik ^a,b,c   Min, Yong Ki ^a,b,c   Kim, Kwang Won ^a,b,c   Lee, Moon Kyu ^a,b,c  

^a Sungkyunkwan University   (South Korea)

^b Gyeongsang National University   (South Korea)

^c WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CORTICOSTERONE; CORTICOTROPIN; CYTOCHROME P450C17; DEOXYCORTICOSTERONE; FOLLITROPIN; LUTEINIZING HORMONE; PRASTERONE SULFATE; DNA; STEROID 17ALPHA MONOOXYGENASE;

ADULT; ALLELE; AMENORRHEA; ARTICLE; CASE REPORT; CORTICOSTERONE BLOOD LEVEL; CYTOCHROME C OXIDASE DEFICIENCY; EXON; FEMALE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HYPERTENSION; HYPOKALEMIA; KARYOTYPE 46,XX; KOREA; MOLECULAR DYNAMICS; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; SEXUAL DEVELOPMENT; STEROIDOGENESIS; GENETICS; ISOLATION AND PURIFICATION; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEXUAL MATURATION;

ADULT; ALLELES; DNA; EXONS; FEMALE; HUMANS; HYPERTENSION; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEXUAL MATURATION; STEROID 17-ALPHA-HYDROXYLASE;

EID: 0038413727     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1053/meta.2003.50080     Document Type: Article

References (22)

1. Zuber MX, Simpson ER, Waterman MR: Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells. Science 234:1258-1261, 1986
2. Bradshaw KD, Waterman MR, Couch RT, et al: Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: A probe for analysis of 17 alpha-hydroxylase deficiency. Mol Endocrinol 1:348-354, 1987
3. Chung BC, Picado-Leonard J, Haniu M, et al: Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): Cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci USA 84:407-411, 1987
4. Yanase T, Simpson ER, Waterman MR: 17-Alpha-hydroxylase/17,20-lyase deficiency: From clinical investigation to molecular definition. Endocr Rev 12:91-108, 1991
5. Suzuki Y, Nagashima T, Nomura Y, et al: A new compound heterozygous mutation (W17X, 436+5G-to-T) in the cytochrome P450c17 gene causes 17-alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab 83:199-202, 1998
6. Yamaguchi H, Nakazato M, Miyazato M, et al: Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency. Hum Genet 102:635-639, 1998
7. Lin D, Harikrishna JA, Moore CCD, et al: Missense mutation serine106-to-proline causes 17alpha-hydroxylase deficiency. J Biol Chem 266:15992-15998, 1991
8. Biason-Lauber A, Leiberman E, Zachmann M: A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. J Clin Endocrinol Metab 82:3807-3812, 1997
9. Fardella CE, Zhang LH, Mahachoklertwattana P, et al: Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab 77:489-493, 1993
10. Ahlgren A, Yanase T, Simpson ER, et al: Compound heterozygous mutations (arg239-to-ter, pro342-to-thr) in the CYP17 (P45017-alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17-alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab 74:667-672, 1992
11. Geller DH, Auchus RJ, Mendonca BB, et al: The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet 17:201-205, 1997
12. Oshiro C, Takasu N, Wakugami T, et al: Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. J Clin Endocrinol Metab 80:2526-2529, 1995
13. Monno S, Ogawa H, Date T, et al: Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency. J Biol Chem 268:25811-25817, 1993
14. Biglieri EG, Herron MA, Brust N: 17-Hydroxylation deficiency in man. J Clin Invest 45:1946-1954, 1966
15. Biason A, Mantero F, Scaroni C, et al: Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17-alpha-hydroxylase/17,20-lyase deficiency in an Italian patient. Mol Endocrinol 5:2037-2045, 1991
16. Kagimoto M, Winter JSD, Kagimoto K, et al: Structural characterization of normal and mutant human steroid 17-alpha-hydroxylase genes: Molecular basis of one example of combined 17-alpha-hydroxylase/17,20 lyase deficiency. Mol Endocrinol 2:564-570, 1988
17. Yanase T, Sanders D, Shibata A, et al: Combined 17-alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P450(17-alpha) (CYP17) gene. J Clin Endocrinol Metab 70:1325-1329, 1990
18. Katsumata N, Satoh M, Mikami A, et al: New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17-alpha-hydroxylase/17,20-lyase deficiency. Horm Res 55:141-146, 2001
19. Yanase T, Kagimoto M, Suzuki S, et al: Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17α) results in partial combined 17-alpha-hydroxylase/17,20-lyase deficiency. J Biol Chem 264:18076-18082, 1989
20. Yanase T, Waterman MR, Zachmann M, et al: Molecular basis of apparent isolated 17,20-lyase deficiency: Compound heterozygous mutations in the C-terminal region (Arg(496)→Cys, Gln(461)→Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency. Biochim Biophys Acta 1139:275-279, 1992
21. Laflamme N, Leblanc JF, Mailloux J, et al: Mutation R96W in cytochrome P450c17 gene causes combined 17-alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients. J Clin Endocrinol Metab 81:264-268, 1996
22. Fardella CE, Hum DW, Homoki J, et al: Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab 79:160-164, 1994