Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms

Clinical Endocrinology

Volumn 48, Issue 6, 1998, Pages 707-711

  Rumsby, G ^a   Avey, C J ^a   Conway, G S ^a   Honour, J W ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b Windeyer Building ^*

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; STEROID 21 MONOOXYGENASE;

ADRENAL HYPERPLASIA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

17-ALPHA-HYDROXYPROGESTERONE; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; ADULT; AGE OF ONSET; CHILD; DNA; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MUTATION; PHENOTYPE; STEROID 21-HYDROXYLASE;

EID: 0031835910     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1998.00402.x     Document Type: Article

References (18)

1. Azziz, R., Dewailly, D. & Owerbach, D. (1994) Nonclassic adrenal hyperplasia: current concepts. Journal of Clinical Endocrinology and Metabolism, 78, 810-815.
2. Belt, K.T., Carroll, M.C. & Porter, R.R. (1984) The structural basis of the multiple forms of human complement component C4. Cell, 36, 907-914.
3. Dewailly, D., Gillot-Longelin, C., Cortet-Rudelli, C. & Fossati, P. (1993) Clinical aspects of 21-hydroxylase deficiency. Seminars in Reproductive Endocrinology, 11, 341-346.
4. Donohue, P.A., Parker, K. & Migeon, C.J. (1995) Congenital adrenal hyperplasia. In: The Metabolic and Molecular Bases of Inherited Disease, Vol. II. (Eds. C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle) pp. 2929-2966, McGraw Hill, New York.
5. Helmberg, A., Tusie-Luna, M.-T., Tabarelli, M., Kofler, R. & White, P.C. (1992) R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Molecular Endocrinology, 6, 1318-1322.
6. Jeanpierre, P. (1987) A rapid method for the purification of DNA from blood. Nucleic Acids Research, 15, 9611.
7. Mulaikal, R.M., Migeon, C.J. & Rock, J.A. (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 316, 178-82.
8. Nelson, D.R., Kamataki, T., Waxman, D. et al. (1993) The P450 super family: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes and nomenclature. DNA Cell Biology, 12, 1-51.
9. Owerbach, D., Sherman, L., Ballard, A.L. & Azziz, R. (1992) Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Molecular Endocrinology, 6, 1211-1215.
10. Rumsby, G. & Honour, J.W. (1990) In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia. Journal of Medical Genetics, 27, 676-678.
11. Rumsby, G., Honour, J.W. & Rodeck, C. (1993) Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene. Clinical Endocrinology, 38, 421-425.
12. Schulze, E., Scharer, G., Togatzki, A. et al. (1995) Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid 21-hydroxylase. Endocrine Research, 21, 359-364.
13. Speiser, P.W., Dupont, B., Rubinstein, P., Piazza, A., Kastelan, A. & New, M.I. (1985) High frequency of nonclassical steroid 21-hydroxylase deficiency. American Journal of Human Genetics, 37, 650-657.
14. Speiser, P.W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M.-T., Lesser, M., New, M.I. & White, P.C. (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Investigation, 90, 584-595.
15. Tusie-Luna, M.-T., Speiser, P.W., Dumic, M., New, M.I. & White, P.C. (1991) A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Molecular Endocrinology, 5, 685-692.
16. Wedell, A., Chun, X. & Luthman, H. (1994a) A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population. Human Genetics, 93, 204-206.
17. Wedell, A., Thilen, A., Ritzen, E.M., Stengler, B. & Luthman, H. (1994b) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation. Journal of Clinical Endocrinology and Metabolism, 78, 1145-1152.
18. 268 result in complete, partial, or no loss of enzymatic activity, respectively. Journal of Clinical Investigation, 88, 519-523.