Novel mutations in CYP11B1 gene leading to 11β-hydroxylase deficiency in Brazilian patients

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 9, 2009, Pages 3481-3485

  Soardi, Fernanda C ^a   Penachioni, Junia Y ^a   Justo, Giselle Z ^b   Bachega, Tânia A S S ^c   Inácio, Marlene ^c   Mendonça, Berenice B ^c   De Castro, Margaret ^c   De Mello, Maricilda P ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; MESSENGER RNA; PROLINE; STEROID 11BETA MONOOXYGENASE;

11BETA HYDROXYLASE DEFIECIENCY; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CYP11B1 GENE; ENZYME DEFICIENCY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HUMAN; OPEN READING FRAME; PRIORITY JOURNAL; THALASSEMIA MAJOR;

EID: 69949084546     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-2521     Document Type: Article

References (19)

1. White PC, Curnow KM, Pascoe L 1994 Disorders of steroid 11β- hydroxylase isoenzymes. Endocr Rev 15:421-438
2. White PC, Speiser PW 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291 (Pubitemid 32275589)
3. Mornet E, Dupont J, Vitek A, White PC 1989 Characterization of two genes encoding human steroid 11β-hydroxylase (P45011β). J Biol Chem 264:20961-20967 (Pubitemid 20017902)
4. Spoudeas HA, Slater JD, Rumsby G, Honour JW, Brook CG 1993 Deoxycorticosterone, 11β-hydroxylase and the adrenal cortex. Clin Endocrinol (Oxf) 39:245-251
5. Hague W, Honour J 1983 Malignant hypertension in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Clin Endocrinol (Oxf) 18:505-510
6. Krawczak M, Cooper DN 1997 The human gene mutation database. Trends Genet 13:121-122
7. Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G 2000 Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Endocrine Res 26:797-801
8. Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L 1993 Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA 90:4552-4556
9. Skinner CA, Rumsby G, Honour JW 1996 Single strand conformation polymorphism (SSCP) analysis for detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab 81:2389-2393 (Pubitemid 26175973)
10. De Carvalho CE, Castro M, Moreira AC, de Mello MP 1999 CYP11B1 mutation and polymorphisms in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. J Endocr Genet 1:79-86
11. Moreira AC, Elias LLK 1992 Pituitary-adrenal responses to corticotropin- releasing hormone in different degrees of adrenal 21-hydroxylase deficiency. J Clin Endocrinol Metab 74:198-203
12. Mermejo LM, Elias LL, Marui S, Moreira AC, Mendonca BB, de Castro M 2005 Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. J Clin Endocrinol Metab 90:1287-1293 (Pubitemid 40463978)
13. Araujo M, Sanches MR, Suzuki LA, Guerra Jr G, Farah SB, DeMello MP 1996 Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency. Braz J Med Biol Res 29:1-13 (Pubitemid 126501437)
14. Soardi FC, Lemos-Marini SHV, Coeli FB, Maturana VG, Silva MD, Bernardi RD, Justo GZ, De Mello MP 2008 Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening. Arq Bras Endocrinol Metab 52:1388-1392
15. White PC, Slutsker L 1995 Haplotype analysis of CYP11B2. Endocr Res 21:437-442
16. Ravichandran KG, Boddupalli SS, Hasermann CA, Peterson JA, Deisenhofer J 1993 Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's. Science 261:731-736 (Pubitemid 23278388)
17. Roumen L, Sanders MP, Pieterse K, Hilbers PA, Plate R, Custers E, de Gooyer M, Smits JF, Beugels I, Emmen J, Ottenheijm HC, Leysen D, Hermans JJ 2007 Construction of 3D models of the CYP11B family as a tool to predict ligand binding characteristics. J Comput Aided Mol Des 21:455-471 (Pubitemid 47423278)
18. Mount SM 1982 A catalogue of splice junction sequences. Nucleic Acids Res 10:459-472
19. Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I 2007 Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 35:4250-4263