CYP21 mutations and congenital adrenal hyperplasia

Clinical Genetics

Volumn 59, Issue 5, 2001, Pages 293-301

  Lee, Hsien Hsiung ^a  

^a King Car Food Industrial Co Ltd   (Taiwan)

Author keywords

Congenital adrenal hyperplasia; CYP21 gene deficiency; Molecular diagnosis

Indexed keywords

DNA; HYDROXYPROGESTERONE; OLIGONUCLEOTIDE; STEROID 21 MONOOXYGENASE;

ALLELE; CHROMOSOME 6P; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA RECOMBINATION; DNA SEQUENCE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; REVIEW; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SPONTANEOUS MUTATION; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; DNA MUTATIONAL ANALYSIS; HUMANS; MUTATION; STEROID 21-HYDROXYLASE;

EID: 0035022439     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590501.x     Document Type: Review

References (83)

1. White PC, New MI, Dupont B. Congenital adrenal hyperplasia. N Engl J Med 1987: 316: 1519-1524, 1580-1586.
2. Miller WL, Morel Y. The molecular genetics of 21-hydroxylase deficiency. Annu Rev Genet 1989: 23: 371-393.
3. Chung Bc. Physiology and molecular biology of P450c21 and P450c17. Adv Mol Cell Biol 1996: 14: 203-223.
4. Zachmann M, Tassinari D, Prader P. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. A study of 25 patients. J Clin Endocrinol Metab 1983: 56: 222-229.
5. Rosler A, Leiberman E. Pathophysiologic and clinical aspects. In: New MI, Levine LS, eds. Adrenal diseases in childhood, vol. 13. Basel: Karger, 1984: 47-71.
6. New MI, White PC, Pang S, Dupont B, Speiser PW. The metabolic basis of inherited disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Part II, 6th edn. New York: McGraw-Hill, 1989: 1881-1917.
7. New MI, Levin LS. Recent advances in 21-hydroxylase deficiency. Annu Rev Med 1984: 35: 649-663.
8. New MI. 21-hydroxylase deficiency in congenital adrenal hyperplasia. J Steroid Biochem Mol Biol 1994: 48: 15-22.
9. Pang S, Wallace MA, Hofman L et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988: 81: 866-874.
10. Lee HH, Kuo JM, Chao HT et al. Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Chinese. J Clin Endocrinol Metab 2000: 85: 597-600.
11. Prader A, Zachmann M, Illig R. Normal spermatogenesis in adult males with congenital adrenal hyperplasia afterdiscontinuation of therapy. In: Lee PA, Plotnick LP, Kowarski AA, Migeon CJ, eds. Congenital Adrenal Hyperplasia. Baltmore: University Park, 1977: 397-401.
12. Higashi Y, Yoshioka H, Yamane M et al. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and genuine gene. Proc Natl Acad Sci USA 1986: 83: 2841-2845.
13. White PC, New MI, Doupont B. Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 1986: 83: 5111-5115.
14. White PC, New MI, Dupont B. HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 1984: 81: 7505-7509.
15. Krawczak M, Cooper DN. The human genome database. http//gdbwww.gdb.org, 2000.
16. Chang SF, Chung Bc. Difference in transcriptional activity of two homologous CYP21A genes. Mol Endocrinol 1995: 9: 1330-1336.
17. Dardis A, Bergada I, Bergada C et al. 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.
18. Donohoue PA, Van Dop C, McLean RH et al. Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab 1986: 62: 995-1002.
19. Tusie-Luna MT, White PC. Gene conversions and unequal crossover between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 1995: 92: 10796-10800.
20. Carroll MC, Palsdottir A, Belt KT et al. Deletion of complement C4A and steroid 21-hydroxylase genes in the class III region. EMBO J 1985: 4: 2547-2552.
21. Schneider PM, Carroll MC, Alper CA et al. Polymorphism of the human complement C4A and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletion, homoduplications, and size variants. J Clin Invest 1986: 78: 650-657.
22. White PC, Vitek A, Dupont B et al. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1988: 85: 4436-4440.
23. Lobato MN, Ordonez-Sanchez ML et al. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease. Hum Hered 1999: 49: 169-175.
24. Matteson KJ, Phillips JA III, Miller WL et al. 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.
25. Miller WL. Gene conversions, deletions and polymorphisms in congenital adrenal hyperplasia. Am J Hum Genet 1988: 42: 004-007.
26. Lee HH, Chang JG, Tsai CH et al. Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency. Clin Chem 2000: 46: 606-611.
27. Wu DA, Chung Bc. 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 1991: 88: 519-523.
28. Wu DA, Hu MC, Chung Bc. Expression and functional study of wild-type and mutant human cytochrome P450c21 in Saccharomyces cerevisiae. DNA Cell Biol 1991: 10: 201-209.
29. Hsu NC, Guzov VM, Hsu LC et al. Characterization of the consequence of a novel Glu-380 to Asp mutation by expression of functional P450c21 in Escherichia coli. Biochim Biophys Acta 1999: 1430: 95-102.
30. Hu MC, Hsu LC, Hsu NC et al. Function and membrane topology of wild-type and mutated cytochrome P-450c21. Biochem J 1996: 316: 325-329.
31. Lajic S, Nikoshkov A, Holst M et al. Effect of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21). Bichem Biophys Res Comun 1999: 257: 384-390.
32. Picado-Leonard J, Miller WL. Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence. Mol Endocrinol 1988: 2: 1145-1150.
33. Chiou SH, Hu MC, Chung Bc. A missense mutation at Ile172 → Asn or Arg356 → Trp cause steroid 21-hydroxylase deficiency. J Biol Chem 1990: 265: 3549-3552.
34. Nikoshkov A, Lajic S, Vlamis-Gardikas A et al. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability. J Biol Chem 1998: 273: 6163-6165.
35. Higashi Y, Tanae A, Inoue H et al. Aberrant splicing and missense mutation cause steroid 21-hydrxylase (P450c21) deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 1988: 85: 7486-7490.
36. Lajic S, Wedell A. An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia. Hum Genet 1996: 98: 182-184.
37. Hsu LC, Hsu NC, Guzova JA et al. The common I172N mutation causes conformation change of cytochrome P450c21 revealed by systematic mutation, kinetic, and structural studies. J Biol Chem 1996: 271: 3306-3310.
38. Helmberg A, Tusie-Luna MT, Tabarelli M et al. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol 1992: 6: 1318-1322.
39. Owerbach D. Sherman L, Ballard AL et al. Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Mol Endocrinol 1992: 6: 1211-1215.
40. Renold AE, Jenkins D, Forsham PH et al. The use of intravenous ACTH: a study in quantitative adrenocortical stimulation. J Clin Endocrinol Metab 1952: 12: 763-797.
41. Thompson R, Seargeant L, Winter JS. Screening for congenital adrenal hyperplasia: distribution of 17-alpha-hydroxyprogesterone concentrations in neonatal blood spot specimens. J Pediatr 1989: 114: 400-404.
42. Honour JW, Rumsby G. Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Steroid Biochem Mol 1993: 45: 69-74.
43. New MI. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). Am J Med (suppl 1A) 1995: 98: 2s-8s.
44. Gruneiro De P, Prieto PL, Chiesa A et al. Congenital adrenal hyperplaisa and early new-born screening: 17 alpha-hydroxyprogesterone (17-alpha-OHP) during the first days of the life. J Med Screen 1998: 5: 24-26.
45. Pollack MS, New MI, O'Neill GJ et al. HLA genotypes and HLA-linked genetic markers in Italian patients with classical 21-hydroxylase deficiency. Hum Genet 1981: 58: 331-337.
46. Mornet E, Boue J, Raux-Demay M et al. First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination. Hum Genet 1986: 73: 358-364.
47. Tajima T, Fujieda K, Fujii-Kuriyama Y, de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings. J Clin Endocrinol Metab 1993: 77: 86-89.
48. Mercado AB, Wilson RC, Cheng KC et al. Prenatal treatment and diagnosis of congenital adrenal hyperplasia deficiency. J Clin Endocrinol Metab 1995: 80: 2014-2020.
49. Klitz W, Stephens JC, Grote M et al. Discordant patterns of linkage disequilibrium of the peptide-transporter loci within the HLA class II region. Am J Hum Genet 1995: 57: 1436-1444.
50. Gyapay G, Morissette J, Vignal A et al. The 1993-94 Genethon human genetic linkage map. Nature Genet 1994: 7: 246-339.
51. Carrington M, Dean M. A polymorphic dinucleotide repeat in the third intron of TAP1. Hum Mol Genet 1994: 3: 218.
52. Martin M, Mann D, Carrington M. Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes. Hum Mol Genet 1995: 4: 423-428.
53. Ordonez-Sanchez ML, Ramirez-Jimenez S, Lopez-Gutierrez AU et al. Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of the apparent germ-line mutations. Hum Genet 1998: 102: 170-177.
54. Lee HH, de Wijs IJ, Sistermans EA. Use of Taq I digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mol Genet Metab 2000: 70: 322-324.
55. Wilson RC, Wei JQ, Cheng KC et al. 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.
56. Day DJ, Speiser PW, White PC et al. Detection of steroid 21-hydroxylase alleles using a multiplexed ligation detection reaction and gene-specific PCR. Genomics 1995: 29: 152-162.
57. Tajima T, Fujieda K, Nakae J et al. Molecular basis of nonclassical steroid 21-hydroxylase deficiency detection by neonatal mass screening in Japan. J Clin Endocrinol Metab 1997: 82: 2350-2356.
58. Ezquieta B, Oliver A, Gracia R et al. Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 1995: 96: 198-204.
59. Speiser PW, White PC, Dupont J et al. Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and southern blot. Hum Genet 1994: 93: 424-428.
60. Tajima T, Fujieda K, Nakayama K et al. Molecular analysis of patients and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformational polymorphism. J Clin Invest 1993: 92: 2182-2190.
61. Lee HH, Chao HT, Ng HT et al. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J Med Genet 1996: 33: 371-375.
62. Lee HH, Chao HT, Lee YJ et al. Identification of four novel mutations in the CYP21 gene in the congenital adrenal hyperplasia in the Chinese. Hum Genet 1998: 103: 304-310.
63. Speiser PW. Dupont J. Zhu D et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992: 90: 584-595.
64. Matteson KJ, Phillips JA III, Miller WL et al. 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.
65. Krone N, Roscher AA, Schwarz HP et al. Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency. Clin Chem 1998: 44: 2075-2082.
66. Ohlsson G, Muller J, Skakkebaek NE et al. Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis. Hum Mutat 1999: 13: 482-486.
67. Levo A, Patarnen J. Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia. Hum Mutat 1997: 9: 363-65.
68. Globerman H, Amor M, Parker KL et al. Nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest 1988: 82: 139-144.
69. Wedell A, Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet 1993: 2: 499-504.
70. White PC, Tusie-Luna MT, New MI et al. Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat 1994: 3: 373-378.
71. Amor M, Parker KL, Globerman H et al. Mutation in the CYP21B gene (lle-172 → Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1988: 85: 1600-1604.
72. Speiser PW, New MI. White PC. Molecular genetic analysis of nonclassic steroid 21-hydroxylase associated with HLA-B14,DR1. N Engl J Med 1988: 319: 19-23.
73. Krone N, Braun A, Röscher AA et al. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 2000: 85: 1059-1065.
74. Barbat B, Bogyo A, Raux-Demay MC et al. Screening of CYP21 gene mutations in 129 French Patients affected by steroid 21-hydroxylase deficiency. Hum Mutat 1995: 5: 126-130.
75. Welell A, Ritzen EM, Haglund-stengler B et al. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype genotype relationships of common mutations. Proc Natl Acad Sci USA 1988: 89: 7232-7236.
76. Lajic S, Levo A, Nikoshkov A et al. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction. Hum Genet 1997: 99: 704-709.
77. Levo A, Partanen J. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles. Hum Genet 1997: 99: 488-497.
78. Kirby-Keyser L, Porter CC. Donohoue PA. E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Mutat 1997: 9: 181-182.
79. Billerbeck AE, Bachega TA, Frazatto ET et al. A novel missense mutation. GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab 1999: 84: 2870-2872.
80. Wedell A, Luthman H. Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene. Hum Genet 1993: 91: 236-240.
81. Krone N, Braun A. Roscher AA et al. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Hum Mutat 1999: 14: 90-91.
82. Nikoshkov A, Lajic S, Vlamis-Gardikas A et al. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability. J Biol Chem 1998: 273: 6163-6165.
83. Witchel SF, Smith R. Suda-Hartman M. Identification of CYP21 mutations, one novel, by single strand conformation polymorphism (SSCP) analysis. Hum Mutat 1998: 13: 172.