Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

European Journal of Endocrinology

Volumn 175, Issue 2, 2016, Pages 107-116

  De Carvalho, Daniel F ^a   Miranda, Mirela C ^a   Gomes, Larissa G ^a   Madureira, Guiomar ^a   Marcondes, José A M ^a   Billerbeck, Ana Elisa C ^a   Rodrigues, Andresa S ^a   Presti, Paula F ^a   Kuperman, Hilton ^a   Damiani, Durval ^a   Mendonca, Berenice B ^a   Bachega, Tania A S S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTENEDIONE; MICROSATELLITE DNA; TESTOSTERONE; CYP21A2 PROTEIN, HUMAN; STEROID 21 MONOOXYGENASE;

ANDROSTENEDIONE BLOOD LEVEL; ARGENTINA; ARTICLE; BRAZIL; CHILD; CHILE; CONGENITAL ADRENAL HYPERPLASIA; CYP21A2 GENE; DISEASE SEVERITY; DNA EXTRACTION; ENZYME ACTIVITY; FEMALE; FOUNDER EFFECT; GENE; GENE CONVERSION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GERMANY; HORMONE DETERMINATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEXICO; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN SCREENING; POINT MUTATION; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; SPAIN; SWEDEN; TESTOSTERONE BLOOD LEVEL; UNITED STATES; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ALLELE; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; NEWBORN; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; BRAZIL; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE; POINT MUTATION; STEROID 21-HYDROXYLASE;

EID: 84979911484     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-16-0171     Document Type: Article

References (45)

1. New M, Lekarev O, Parsa A, Yuen T, O'Malley B & Hammer G. Genetic Steroid Disorders. London, UK: Elsevier, 2013.
2. Speiser PW, Knochenhauer ES, Dewailly D, Fruzzetti F, Marcondes JA & Azziz R. A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationship between genotype and phenotype. Molecular Genetics and Metabolism 2000 71 527-534. (doi:10.1006/mgme.2000.3036)
3. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 2006 91 4205-4214. (doi:10.1210/jc.2006-1645)
4. Silveira EL, dos Santos EP, Bachega TA, van der Linden Nader I, Gross JL & Elnecave RH. The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred - an estimate based on a public neonatal screening program in the state of Goias. Journal of Pediatric Endocrinology & Metabolism 2008 21 455-460. (doi:10.1515/JPEM.2008.21.5.4556)
5. Hayashi G, Faure C, Brondi MF, Vallejos C, Soares D, Oliveira E, Brito VN, Mendonca BB & Bachega TASS. Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia. Arquivos Brasileiros de Endocrinologia & Metabologia 2011 55 632-637. (doi:10.1590/S0004-27302011000800019)
6. White PC & Bachega TA. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood. Seminars in Reproductive Medicine 2012 30 400-409. (doi:10.1055/s-0032-1324724)
7. Krone N, Braun A, Roscher AA, Knorr D & Schwarz HP. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. Journal of Clinical Endocrinology & Metabolism 2000 85 1059-1065.
8. Bachega TA, Billerbeck AE, Parente EB, Lemos-Marini SH, Baptista MT, Mello MP, Guerra G Jr, Kuperman H, Setian N, Damiani D et al. [Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]. Arquivos Brasileiros de Endocrinologia & Metabologia 2004 48 697-704. (doi:10.1590/S0004-27302004000500016)
9. Wedell A, Thilén A, Ritzén EM, Stengler B & Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. Journal of Clinical Endocrinology & Metabolism 1994 78 1145-1152. (doi:10.1210/jcem.78.5.8175971)
10. Wedell A & Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Human Molecular Genetics 1993 2 499-504. (doi:10.1093/hmg/2.5.499)
11. Bachega TA, Billerbeck AE, Madureira G, Marcondes JA, Longui CA, Leite MV, Arnhold IJ & Mendonca BB. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 1998 83 4416-4419. (doi:10.1210/jcem.83.12.5350)
12. Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, Ogawa E, Nakayama K & Fujii-Kuriyama Y. Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. Journal of Biochemistry 1991 109 638-644.
13. Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M et al. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. Clinical Endocrinology 2011 75 427-435. (doi:10.1111/cen.2011.75.issue-4)
14. Krone N, Rose IT, Willis DS, Hodson J, Wild SH, Doherty EJ, Hahner S, Parajes S, Stimson RH, Han TS et al. Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort. Journal of Clinical Endocrinology & Metabolism 2013 98 E346-E354. (doi:10.1210/jc.2012-3343)
15. New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC & Yuen T. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. PNAS 2013 110 2611-2616. (doi:10.1073/pnas.1300057110)
16. Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB & Merke DP. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 2011 96 E161-E172. (doi:10.1210/jc.2010-0319)
17. Ezquieta B, Cueva E, Oyarzábal M, Oliver A, Varela JM & Jariego C. Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population. Clinical Genetics 2002 62 181-188. (doi:10.1034/j.1399-0004.2002.620213.x)
18. Sarafoglou K, Lorentz CP, Otten N, Oetting WS & Grebe SK. Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening. Clinical Genetics 2012 82 64-70. (doi:10.1111/cge.2012.82.issue-1)
19. União DOd. Portaria Ministerial N 2.829. Brasil, 2012.
20. Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ & Mendonca BB. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical Endocrinology 2000 52 601-607. (doi:10.1046/j.1365-2265.2000.00995.x)
21. Bachega TA, Billerbeck AE, Madureira G, Arnhold IJ, Medeiros MA, Marcondes JA, Longui CA, Nicolau W, Bloise W & Mendonca BB. Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency. Human Heredity 1999 49 9-14. (doi:10.1159/000022833)
22. Costa-Barbosa FA, Tonetto-Fernandes VF, Carvalho VM, Nakamura OH, Moura V, Bachega TA, Vieira JG & Kater CE. Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency. Clinical Endocrinology 2010 73 700-706. (doi:10.1111/cen.2010.73.issue-6)
23. Billerbeck AE, Bachega TA, Frazatto ET, Nishi MY, Goldberg AC, Marin ML, Madureira G, Monte O, Arnhold IJ & Mendonca BB. A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 1999 84 2870-2872. (doi:10.1210/jcem.84.8.5937)
24. Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ & Bachega TA. Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. Journal of Clinical Endocrinology & Metabolism 2002 87 4314-4317. (doi:10.1210/jc.2001-011939)
25. Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y & Chaabouni H. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. Journal of Clinical Endocrinology & Metabolism 2004 89 368-374. (doi:10.1210/jc.2003-031056)
26. Baumgartner-Parzer SM, Schulze E, Waldhäusl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F & Vierhapper H. Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation. Journal of Clinical Endocrinology & Metabolism 2001 86 4771-4775. (doi:10.1210/jc.86.10.4771)
27. Fardella CE, Poggi H, Pineda P, Soto J, Torrealba I, Cattani A, Oestreicher E & Foradori A. Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population. Journal of Clinical Endocrinology & Metabolism 1998 83 3357-3360. (doi:10.1210/jc.83.9.3357)
28. Fardella CE, Poggi H, Soto J, Torrealba I, Cattani A, Ugarte F, Cortinez A & Foradori A. Mutations in the CYP21 B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia. Journal of Endocrinological Investigation 2000 23 412-416. (doi:10.1007/BF03343746)
29. Friães A, Rêgo AT, Aragü00E9s JM, Moura LF, Mirante A, Mascarenhas MR, Kay TT, Lopes LA, Rodrigues JC, Guerra S et al. CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. Molecular Genetics and Metabolism 2006 88 58-65. (doi:10.1016/j.ymgme.2005.11.015)
30. Ordoñez-Sánchez ML, Ramírez-Jiménez S, López-Gutierrez AU, Riba L, Gamboa-Cardiel S, Cerrillo-Hinojosa M, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C & Mendoza-Morfin F. Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations. Human Genetics 1998 102 170-177. (doi:10.1007/s004390050672)
31. Santomé Collazo JL, Cirujano Segura A, Ferreiro Fernández B, Casado Fúnez C, Muñoz-Pacheco R & Ezquieta Zubicaray B. [Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening]. Medicina Clínica 2010 135 195-201. (doi:10.1016/j.medcli.2009.11.039)
32. Silveira EL, Elnecave RH, dos Santos EP, Moura V, Pinto EM, van der Linden Nader I, Mendonca BB & Bachega TA. Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia. Clinical Genetics 2009 76 503-510. (doi:10.1111/cge.2009.76.issue-6)
33. Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M & Morel Y. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. Journal of Clinical Endocrinology & Metabolism 2010 95 1288-1300. (doi:10.1210/jc.2009-1202)
34. Krone N, Riepe FG, Grötzinger J, Partsch CJ, Brämswig J & Sippell WG. The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions. Journal of Molecular Medicine 2005 83 561-568. (doi:10.1007/s00109-005-0655-3)
35. Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S et al. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. European Journal of Endocrinology 2005 153 99-106. (doi:10.1530/eje.1.01944)
36. Higashi Y, Tanae A, Inoue H, Hiromasa T & Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. PNAS 1988 85 7486-7490. (doi:10.1073/pnas.85.20.7486)
37. Araujo RS, Billerbeck AE, Madureira G, Mendonca BB & Bachega TA. Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation. Clinical Endocrinology 2005 62 132-136. (doi:10.1111/cen.2005.62.issue-2)
38. Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TA & Miller WL. Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 2009 94 89-95. (doi:10.1210/jc.2008-1174)
39. Welzel M, Schwarz HP, Hedderich J, Dörr HG, Binder G, Brämswig JH, Krude H, Richter-Unruh A, Niedziela M, Gromoll J et al. No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 2010 95 2443-2450. (doi:10.1210/jc.2009-1338)
40. Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL et al. Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. Journal of Clinical Endocrinology & Metabolism 2009 94 1570-1578. (doi:10.1210/jc.2008-1582)
41. Bachega TA, Brenlha EM, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ & Mendonca BB. Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. Journal of Clinical Endocrinology & Metabolism 2002 87 786-790.
42. Araújo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE & Bachega TA. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. Journal of Clinical Endocrinology & Metabolism 2007 92 4028-4034. (doi:10.1210/jc.2006-2163)
43. Ezquieta B, Cueva E, Varela J, Oliver A, Fernández J & Jariego C. Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations. Acta Paediatrica 2002 91 892-898. (doi:10.1111/j.1651-2227.2002.tb02851.x)
44. Virdi NK, Rayner PH, Rudd BT & Green A. Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Archives of Disease in Childhood 1987 62 659-662. (doi:10.1136/adc.62.7.659)
45. Hird BE, Tetlow L, Tobi S, Patel L & Clayton PE. No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening. Archives of Disease in Childhood 2014 99 158-164.