Molecular characterization of 25 chinese pedigrees with 21-hydroxylase deficiency

Genetic Testing and Molecular Biomarkers

Volumn 15, Issue 3, 2011, Pages 137-142

  Yu, Yongguo ^a   Wang, Jian ^a   Huang, Xiaodong ^a   Wang, Ying ^a   Yang, Peirong ^a   Li, Juan ^a   Tsuei, Sian Hsiang Te ^b   Shen, Yongnian ^a   Fu, Qihua ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b UNIVERSITY OF WATERLOO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOCHROME P450 21A2; LEUCINE; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

AMBIGUOUS GENITALIA; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; MALE; PEDIGREE; SALT WASTING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE;

EID: 79952122342     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0131     Document Type: Article

References (22)

1. Bachega TASS, Billerbeck AEC, Madureira G, et al. (1998) Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab 83:4416-4419. (Pubitemid 29100145)
2. Billerbeck AEC, Mendonca BB, Pinto EM, et al. (2002) Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. J Clin Endocrinol Metab 87:4314-4317.
3. Ezquieta B, Oliver A, Gracia R, et al. (1995) Analysis of steroid 21- hydroxylase gene mutations in the Spanish population. Am J Hum Genet 96:198-204.
4. Grischuk Y, Rubtsov P, Riepe FG, et al. (2006) Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab 91:4976-4980. (Pubitemid 44917337)
5. Kharrat M, Tardy V, M'Rad R, et al. (2004) Molecular genetic analysis of Tunisian patients with a classic form of 21- hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318 mutation. J Clin Endocrinol Metab 89:368-374. (Pubitemid 38183906)
6. Lee HH, Chao HT, Lee YJ, et al. (1998) Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese. Am J Hum Genet 103:304-310.
7. Levo A, Partanen J (1997) Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles. Am J Hum Genet 99:488-497. (Pubitemid 27152098)
8. Liivak K, Tobi, S, Schlecht H, et al. (2008) Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia. Horm Res 69:227-232. (Pubitemid 351562911)
9. Morel Y, Miller WL (1991) Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 20:61-68.
10. Mornet E, Crete A, Kuttenn F, et al. (1991) Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 48:79-88. (Pubitemid 21903028)
11. Mornet E, Gibrat JF (2000) A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations. Am J Hum Genet 106:330-339. (Pubitemid 30201282)
12. Robins T, Carlsson J, Sunnerhagen M, et al. (2006) Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia. Mol Endocrinol 20:2946-2964. (Pubitemid 44834328)
13. Sadeghi F, Yurur-Kutlay N, Berberoglu M, et al. (2008) Identification of frequency distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey. J Pediatr Endocrinol Metab 21:781-787.
14. Speiser PW, Dupont J, Zhu D, et al. (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90:584-595.
15. Speiser PW, White PC (2003) Congenital adrenal hyperplasia. N Engl J Med 349:776-788. (Pubitemid 37010783)
16. Tajima T, Fujieda K, Nakayma K, et al. (1993) Molecular analysis of patients and carrier genes with congential 21-hydroxylase deficiency by polymerase chain reaction and single strand conformational polymorphism. J Clin Invest 92:2182-2190. (Pubitemid 23333522)
17. Tukel T, Uyguner O, Wei JQ, et al. (2003) A novel semiquantitative polymerase chain reaction/enzyme digestion-base method for detection of large scale deletions/conversions in Turkish families with 21- hydroxylase deficiency. J Clin Endocrinol Metab 88:5893-5897. (Pubitemid 38033069)
18. Wedell A, Thilen A, Ritzen EM, et al. (1994) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78:1145-1152. (Pubitemid 24143038)
19. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21- hydroxylase deficiency. Endocr Rev 21:245-291. (Pubitemid 32275589)
20. Wilson RC, Mercado AB, Cheng KC, et al. (1995a) Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 80:2322-2329.
21. Wilson RC, Wei JQ, Cheng KC, et al. (1995b) Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 80:1635-1640.
22. Zhang B, Lu ZL, Wang Y, et al. (2004) Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency. Yi Chuan Xue Bao 31:950-955. (Pubitemid 39486098)