Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency in a moroccan population

Hormone Research in Paediatrics

Volumn 74, Issue 3, 2010, Pages 182-189

  Chabraoui, L ^a   Abid, F ^a   Menassa, R ^b   Gaouzi, A ^c   El Hessni, A ^d   Morel, Y ^b  

^a IBN SINA HOSPITAL   (Morocco)

^b UNIVERSITÉ DE LYON   (France)

^c Hopital d'Enfants   (Morocco)

^d IBN TOFAIL UNIVERSITY   (Morocco)

Author keywords

11 Hydroxylase; Congenital adrenal hyperplasia; CYP11B1 gene

Indexed keywords

ALDOSTERONE SYNTHASE; CORTODOXONE; STEROID 11BETA MONOOXYGENASE;

AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CYP11B1 GENE; DATA ANALYSIS; ENZYME DEFICIENCY; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HYPERTENSION; JEW; MALE; MOLECULAR GENETICS; MOLECULAR MODEL; MOROCCO; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TUNISIA;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MOROCCO; MUTATION; STEROID 11-BETA-HYDROXYLASE;

EID: 78049477873     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000281417     Document Type: Article

References (37)

1. New M, White P, Pang S, Dupont B, Speiser P: The adrenal hyperplasias; in Scriver C, Beaudet A, Sly W, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1989, pp 1881-1917.
2. Morel Y, Bertrand J, Rappaport R: Corticoids: Disorders of hormonosynthesis; in Bertrand J, Rappaport R, Sizonenko P (eds): Pediatric Endocrinology. Baltimore, Williams & Wilkins, 1993, pp 305-332.
3. Werder EA, Siebenmann RE, Knorr-Murset G, Zimmermann A, Sizonenko PC, Theintz P, Girard J, Zachmann M, Prader A: The incidence of congenital adrenal hyperplasia in Switzerland - a survey of patients born in 1960 to 1974. Helv Paediatr Acta 1980; 35: 5-11. (Pubitemid 10110429)
4. Bois E, Mornet E, Chompret A, Feingold J, Hochez J, Goulet V: L'hyperplasie congénitale des surrénales (21-OH) en France. Arch Fr Pédiatr 1985; 42: 175-179. (Pubitemid 15118540)
5. Paperna T, Gershoni-Baruch R, Badarneh K, Kasinetz L, Hochberg Z: Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. J Clin Endocrinol Metab 2005; 90: 5463-5465. (Pubitemid 41262316)
6. Rosler A, Leiberman E, Cohen T: High frequency of congenital adrenal hyperplasia (classic 11beta-hydroxylase deficiency) among Jews from Morocco. Am J Med Genet 1992; 42: 827-834.
7. Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refai 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. J Clin Endocrinol Metab 2004; 89: 368-374. (Pubitemid 38183906)
8. Abid F, Tardy V, Gaouzi A, El Hessni A, Morel Y, Chabraoui L: CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: High regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. Clin Chem Lab Med 2008; 46: 1707-1713.
9. White PC, Curnow KM, Pascoe L: Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev 1994; 15: 421-438.
10. Mornet E, Dupont J, Vitek A, White PC: Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta). J Biol Chem 1989; 264: 20961-20967. (Pubitemid 20017902)
11. Nimkarn S, New MI: Steroid 11beta-hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab 2008; 19: 96-99. (Pubitemid 351442916)
12. Bhangoo A, Wilson R, New MI, Ten S: Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: A case report and review of the literature. J Pediatr Endocrinol Metab 2006; 19: 1267-1282. (Pubitemid 44823458)
13. White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rosler A: A mutation in CYP11B1 (Arg-448 ] His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest 1991; 87: 1664-1667.
14. Chaabouni H, Menassa R, Maazoul F, Bochra F, Myrvat K, Maha K, Ben Jemaa L, M'Rad R, Morel Y: 11beta-hydroxylase deficiency in Tunisia only due to two mutations of the CYP11B1 gene: A379v, a novel and Q356X. Horm Res 2005; 64(suppl 1):336-337.
15. Robins T, Carlsson J, Sunnerhagen M, Wedell A, Persson B: Molecular model of human CYP21 based on mammalian CYP2C5: Structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia. Mol Endocrinol 2006; 20: 2946-2964. (Pubitemid 44834328)
16. Krone N, Grischuk Y, Muller M, Volk RE, Grotzinger J, Holterhus PM, Sippell WG, Riepe FG: Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. J Clin Endocrinol Metab 2006; 91: 2682-2688. (Pubitemid 44024637)
17. Krone N, Riepe FG, Gotze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grotzinger J, Peter M, Sippell WG: Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: Functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab 2005; 90: 3724-3730. (Pubitemid 41014348)
18. Thompson JD, Higgins DG, Gilbson TJ: CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994; 22: 4673-4680.
19. Melo F, Feytmans E: Assessing protein structures with a non-local atomic interaction energy. J Mol Biol 1998; 277: 1141-1152. (Pubitemid 28190852)
20. Melo F, Devos D, Depiereux E, Feytmans E: Anolea: A www server to assess protein structures. Proc Int Conf Intell Syst Mol Biol 1997; 5: 187-190.
21. Bowie JU, Luthy R, Eisenberg D: A method to identify protein sequences that fold into a known three-dimensional structure. Science 1991; 253: 164-170. (Pubitemid 21917131)
22. van Gunsteren WF, Dolenc J, Mark AE: Molecular simulation as an aid to experimentalists. Curr Opin Struct Biol 2008; 18: 149-153.
23. Hasemann CA, Kurumbail RG, Boddupalli SS, Peterson JA, Deisenhofer J: Structure and function of cytochromes P450: A comparative analysis of three crystal structures. Structure 1995; 3: 41-62.
24. Robins T, Barbaro M, Lajic S, Wedell A: Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia. J Clin Endocrinol Metab 2005; 90: 2148-2153. (Pubitemid 40586254)
25. Williams PA, Cosme J, Sridhar V, Johnson EF, McRee DE: Mammalian microsomal cytochrome P450 monooxygenase: Structural adaptations for membrane binding and functional diversity. Mol Cell 2000; 5: 121-131. (Pubitemid 30105441)
26. Johnson EF, Wester MR, Stout CD: The structure of microsomal cytochrome P450 2C5: A steroid and drug metabolizing enzyme. Endocr Res 2002; 28: 435-441.
27. Aljurayyan NAM: Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: Clinical and biochemical characteristics. Acta Paediatr 1995; 84: 651-654.
28. Zachmann M, Tasinari D, Prader A: 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. (Pubitemid 13184352)
29. Hampf M, Dao NT, Hoan NT, Bernhardt R: Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 4445-4452. (Pubitemid 32848573)
30. Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, Cutler GB: Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab 1998; 83: 270-273. (Pubitemid 28498349)
31. Chabre O, Portrat-Doyen S, Chaffanjon P, Vivier J, Liakos P, Labat-Moleur F, Chambaz E, Morel Y, Defaye G: Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. J Clin Endocrinol Metab 2000; 85: 4060-4068. (Pubitemid 32055353)
32. Skinner CA, Rumsby G, Honour JW: Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab 1996; 81: 2389-2393. (Pubitemid 26175973)
33. Buratti E, Chivers M, Kralovicova J, Romano M, Baralle M, Krainer AR, Vorechovsky I: Aberrant 5' splice sites in human disease genes: Mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 2007; 35: 4250-4263. (Pubitemid 47260233)
34. Belkina NV, Lisurek M, Ivanov AS, Bernhardt R: Modelling of three-dimensional structures of cytochromes P450 11B1 and 11B2. J Inorg Biochem 2001; 87: 197-207. (Pubitemid 34017224)
35. Geley S, Kapelari K, Johrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell WG, White PC, Kofler R: CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab 1996; 81: 2896-2901. (Pubitemid 26323882)
36. Sido AG, Weber MM, Sido PG, Clausmeyer S, Heinrich U, Schulze E: 21-hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2005; 90: 5769-5773. (Pubitemid 41415490)
37. Motaghedi R, Betensky BP, Slowinska B, Cerame B, Cabrer M, New MI, Wilson RC: Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. J Pediatr Endocrinol Metab 2005; 18: 133-142. (Pubitemid 40305591)