Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17α-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia

Tohoku Journal of Experimental Medicine

Volumn 190, Issue 4, 2000, Pages 279-287

  Uehara, Shigeki ^a   Sato, Junko ^a   Nishiyama, Yuko ^a   Matsuzaki, Sachiko ^a   Funato, Tadao ^a   Murotsuki, Jun ^a   Yaegashi, Nobuo ^a   Okamura, Kunihiro ^a   Yajima, Akira ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Congenital adrenal hyperplasia; CYP17; Mutation screening; Regional accumulation of the same mutations; XY sex reversal

Indexed keywords

STEROID 17ALPHA MONOOXYGENASE;

ADULT; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; GENETICS; GENITAL SYSTEM; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PSEUDOHERMAPHRODITISM;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; BASE SEQUENCE; GENITALIA; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PSEUDOHERMAPHRODITISM; STEROID 17-ALPHA-HYDROXYLASE;

EID: 0034167938     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.190.279     Document Type: Article

References (22)

1. α-hydroxylase/17,20-lyase deficiency. J. Clin. Endocrinol. Metab., 74, 667-672.
2. Bernard, P.S., Ajioka, R.S., Kushner, J.P. & Wittwer, C.T. (1998) Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes. Am. J. Pathol., 153, 1055-1061.
3. α-hydroxylase/17,20-lyase deficiency in an Italian patient. Molec. Endocr., 5, 2037-2045.
4. Biason-Lauber, A., Leiberman, E. & Zachmann, M. (1997) 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.
5. Biglieri, E.G., Herron, M.A. & Brust, N. (1966) 17-Hydroxylation deficiency in man. J. Invest., 45, 1946-1954.
6. α) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding. Genomics, 14, 1110-1111.
7. Geller, D.H., Auchus, R.J., Mendonca, B.B. & Miller, W.L. (1997) The genetic and functional basis of isolated 17,20-lyase deficiency. Nature Genet., 17, 201-205.
8. α-hydroxylase deficiency. Hum. Genet., 89, 95-96.
9. α-monnoxygenase (P-450C-17) deficiency in two unrelated Guamanians. Am. J. Dis. Child., 146, 592-595.
10. α-hydroxylase/17,20 lyase deficiency. Molec. Endocr., 2, 564-570.
11. α-hydroxylase/17,20-lyase deficiency in two Mennonite families. Hum. Genet., 82, 285-286.
12. α-hydroxylase/17, 20-lyase deficiency in two French Canadian patients. J. Clin. Endocrinol. Metab., 81, 264-268.
13. α-hydroxylase deficiency. J. Biol. Chem., 266, 15992-15998.
14. McKusick, V.A. (1994) Mendelian inheritance in man In: A Catalog of Human Genes and Genetic Disorders, 11th ed., The Johns Hopkins University Press, Baltimore London.
15. α 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.
16. α-Hydroxylase deficiency. J. Biol. Chem., 268, 25811-25817.
17. α-hydroxylase deficiency. J. Clin. Invest., 49, 1930-1941.
18. Oshiro, C., Takasu, N., Wakugami, T., Komiya, I., Yamada, T., Eguchi, Y. & Takei, H. (1995) Seventeen a-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. J. Clin. Endocrinol. Metab., 80, 2526-2529.
19. Picado-Leonard, J. & Miller, W.L. (1987) Cloning and sequence of the human gene for P450c17 (steroid 17α-hydroxylase/17, 20 lyase): Similarity with the gene for P450c21. DNA, 6, 439-448.
20. α-hydroxylase deficiency. J. Clin. Endocrinol. Metab., 82, 1934-1938.
21. α-hydroxylase. 17,20-lyase deficiency. J. Biol. Chem., 264, 18076-18082.
22. α)(CYP17) gene. J. Clin. Endocrinol. Metab., 70, 1325-1329.