Low frequency of CYP21B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Human Heredity

Volumn 49, Issue 1, 1999, Pages 9-14

  Bachega, Tânia A S S ^a   Billerbeck, Ana Elisa C ^a   Madureira, Guiomar ^a   Arnhold, Ivo J P ^a   Medeiros, Maria A ^a   Marcondes, José A M ^a   Longui, Carlos A ^b   Nicolau, Willian ^a   Bloise, Walter ^a   Mendonca, Berenice B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Pediatric Endocrinology Unit   (Brazil)

Author keywords

21 Hydroxylase deficiency; Brazilian patients; Large gene mutations; Multiple restriction analysis

Indexed keywords

COMPLEMENTARY DNA; CYTOCHROME P450 ISOENZYME; DNA; STEROID 21 MONOOXYGENASE;

ARTICLE; BRAZIL; CONGENITAL ADRENAL HYPERPLASIA; DNA PROBE; EXON; GENE CONVERSION; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HYBRID GENE; MAJOR CLINICAL STUDY; MUTATION RATE; RESTRICTION MAPPING; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY; ADULT; ALLELE; CHILD; ENZYMOLOGY; FEMALE; GENETICS; MALE; METHODOLOGY; MUTATION; POLYMERASE CHAIN REACTION;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ALLELES; BLOTTING, SOUTHERN; BRAZIL; CHILD; FEMALE; GENE DELETION; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; STEROID 21-HYDROXYLASE;

EID: 0032589001     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022833     Document Type: Article

References (41)

1. Morel Y, Miller WL: Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991;20:1-67.
2. New MI, White PC, Pang S, Dupont B, Speiser PW: The adrenal hyperplasias; in Scriver CR, Beaudet AL, Sly S, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1989, pp 1881-1918.
3. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, Dobbins RH, Kling S, Fujieda K, Suwa S: Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-874.
4. Thilén A, Larsson A: Congenital adrenal hyperplasia Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand 1990;79:168-175.
5. Laue L, Rennert OM: Congenital adrenal hyperplasia: Molecular genetics and alternative approaches to treatment. Adv Pediatrics 1995;42:113-143.
6. New MI, Lorenzen F, Lerner AJ, Kohn B, Oberfield SE, Pollack MS, Dupont B, Storner E, Levy DJ, Pang S, Levine LS: Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data. J Clin Endocrinol Metab 1983;57:320-326.
7. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusié-Luna MT, Lesser M, New MI, White PC: Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992;90:584-595.
8. Wedell A, Thilén A, Ritzén EM, Stengler B: Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994;78:1145-1152.
9. White PC, New MI, Dupont B: Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 1986;83:5111-5115.
10. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y: Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene. Proc Natl Acad Sci USA 1986;83:2841-2845.
11. Carroll MC, Campbell RD, Porter RR: Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA 1985;82:521-525.
12. Mornet E, Couillin P, Kutten F, Raux MC, White PC, Cohen D, Boué A, et al: Association between restriction fragment length polymorphism detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency. Hum Genet 1986;84:402-408.
13. Donohoue PA, Jospe N, Migeon CJ, MacLean PH, Bias WB, White PC, Van Dop C: Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes. Biochem Biophys Res Commun 1986;136:722-729.
14. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y: Evidence for frequent gene conversions in the steroid 21-hydroxylase (P-450c21) gene: Implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 1988;42:17-25.
15. Donohoue PA, Jospe N, Migeon CJ, Van Dop C: Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 1989;5:397-406.
16. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T: Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J 1989;8:1393-1402.
17. Strachan T: Molecular pathology of congenital adrenal hyperplasia. Clin Endocrinol 1990;32:373-393.
18. Miller WL: Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994;78:241-246.
19. Morel Y, André J, Uring-Lambert B, Hauptmann G, Bétuel H, Tossi M, Forest MG, David M, Bertrand J, Miller WL: Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest 1989;83:527-536.
20. Tusié-Luna MT, Ramírez-Jiménez S, Ordóñez-Sanchez ML, Cabello-Villegas J, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C, Mendoza-Morfín F, Méndez JP, Terán-García M: Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population. Hum Genet 1996;98:376-379.
21. Tajima T, Fuiieda K, Nakayama K, Fujii-Kuriyama Y: Molecular analysis of patient and carrier genes with congenital steroid 21-hyroxylase deficiency by using polymerase chain reaction and single-strand conformation polymorphism. J Clin Invest 1993;92:2182-2190.
22. Araujo M, Sanches MR, Suzuki LA, Guerra G Jr, Farah SB, Mello MP: Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency. Braz J Med Biol Res 1996;29:1-13.
23. Feinberg AP, Vogelstein B: A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Addendum. Anal Biochem 1984;137:266-267.
24. Southern EM: Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975;98:503-517.
25. Wilson RC, Wei JQ, Cheng KC, Mercado AB, New MI: Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 1995;80:1635-1640.
26. Rumsby G, Carroll MC, Porter RR, Grant DB, Hjelm M: Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia. J Med Genet 1986;23:204-209.
27. Werkmeister JW, New MI, Dupont B, White PC: Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet 1986;39:461-469.
28. Matteson KJ, Phillips JA III, Miller WL, Chung BC, Orlando PJ, Frisch H, Ferrandez A, Burr IA: P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci USA 1987;84:5858-5862.
29. Morel Y, Murena M. Nicolino M, Forest MG: Molecular genetics of the congenital adrenal hyperplasia due to 21-hydroxylase deficiency; in Saez JM, Brownie AC, Capponi A, Chambaz EM, Mantero F (eds): Cellular and Molecular Biology of the Adrenal Cortex. Colloque INSERM 1992;222:123-136.
30. Carrera P, Ferrari M, Beccaro F, Spiga I, Zanussi M, Rigon F, Braggion F, Zacchello F, Greggio N: Molecular characterization of 21-hydroxylase deficiency in 70 Italian families. Hum Hered 1993;43:190-196.
31. Ezquieta B, Olivera B, Gracia R, Gancedo PG: Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 1995;96:198-204.
32. Dardis A, Bergada I, Bergada C, Rivarola M, Belgorosky A: Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 1997;10:55-61.
33. Jääskeläinen J, Levo A, Voutilainen R, Partanen J: 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 1997;82:3293-3297.
34. Wedell A, Stengler B, Luthman H: Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency. Hum Genet 1994;94:50-54.
35. White PC, New MI: Genetic basis of endocrine disease. 2. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1992;74:6-11.
36. Bristow J, Gitelman SE, Tee MK, Staels B, Miller WL: Abundant adrenal-specific transcription of the human P450c21A 'pseudogene'. J Biol Chem 1993;268:12919-12924.
37. Chang SF, Chung BC: Difference in transcriptional activity of two homologous CYP21A genes. Mol Endocrinol 1995;9:1330-1336.
38. Tusié-Luna MT, Speiser PW, Dumic M, New MI, White PC: A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol 1991;5:685-692.
39. Killeen AA, Sane KS, Orr HT: Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene. J Steroid Biochem Mol Biol 1991;38:677-686.
40. Winkel CA, Casey ML, Worley RJ, Madden JD, MacDonald PC: Extraadrenal steroid 21-hydroxylase activity in woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1983;56:104-107.
41. Speiser PW, Agdere L, Ueshiba H, White PC, New MI: Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase. N Engl J Med 1991;324:145-149.