Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia

Clinical Biochemistry

Volumn 42, Issue 13-14, 2009, Pages 1363-1367

  Neocleous, Vassos ^a   Ioannou, Yiannis S ^b   Bartsota, Margarita ^b   Costi, Constandina ^a   Skordis, Nicos ^b   Phylactou, Leonidas A ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b Makarios III Hospital   (Cyprus)

Author keywords

Congenital adrenal hyperplasia; CYP21A2; Mutations

Indexed keywords

CYTOCHROME P450 1A2; SODIUM CHLORIDE; STEROID 21 MONOOXYGENASE;

ADULT; ALLELE; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CYPRUS; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SALT WASTING; SEQUENCE ANALYSIS; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; CHILD; CYPRUS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; MUTATION; MUTATION, MISSENSE; STEROID 21-HYDROXYLASE; YOUNG ADULT;

EID: 69249221357     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.05.015     Document Type: Article

References (22)

1. White P.C., and Speiser P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21 3 (2000) 245-291
2. New M.I., et al. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J. Clin. Endocrinol. Metab. 86 12 (2001) 5651-5657
3. White P.C. Genetics of steroid 21-hydroxylase deficiency. Recent Prog. Horm. Res. 43 (1987) 305-336
4. New M.I., et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J. Clin. Endocrinol. Metab. 57 2 (1983) 320-326
5. Miller W.L. Molecular biology of steroid hormone synthesis. Endocr. Rev. 9 3 (1988) 295-318
6. Donohoue P.A., et al. Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 5 3 (1989) 397-406
7. Lajic S., et al. Novel mutations in CYP21 detected in individuals with hyperandrogenism. J. Clin. Endocrinol. Metab. 87 6 (2002) 2824-2829
8. Wedell A., and Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum. Mol. Genet. 2 5 (1993) 499-504
9. Robins T., et al. Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. J. Mol. Med. 85 3 (2007) 247-255
10. Speiser P.W., et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J. Clin. Invest. 90 2 (1992) 584-595
11. Dracopoulou-Vabouli M., Maniati-Christidi M., and Dacou-Voutetakis C. The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 86 6 (2001) 2845-2848
12. Bobba A., et al. 1-Hydroxylase deficiency in Italy: a distinct distribution pattern of CYP21 mutations in a sample from southern Italy. J. Med. Genet. 36 8 (1999) 648-650
13. Krone N., et al. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J. Clin. Endocrinol. Metab. 85 3 (2000) 1059-1065
14. Carrera P., et al. Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency. Hum. Genet. 98 6 (1996) 662-665
15. Jaaskelainen J., et al. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. J. Clin. Endocrinol. Metab. 82 10 (1997) 3293-3297
16. Lako M., et al. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. J. Med. Genet. 36 2 (1999) 119-124
17. Rumsby G., et al. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms. Clin. Endocrinol. (Oxf) 48 6 (1998) 707-711
18. Dacou-Voutetakis C., and Dracopoulou M. High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche. J. Clin. Endocrinol. Metab. 84 5 (1999) 1570-1574
19. Wilson R.C., et al. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J. Clin. Endocrinol. Metab. 80 8 (1995) 2322-2329
20. Wasniewska M., et al. In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype. J. Endocrinol. Invest. 30 3 (2007) 181-185
21. Rodrigues N.R., et al. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J. 6 6 (1987) 1653-1661
22. Wu D.A., and Chung B.C. Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. J. Clin. Invest. 88 2 (1991) 519-523