Congenital adrenal hyperplasia due to 11-hydroxylase deficiency - Insights from two novel CYP11B1 mutations (p.M92X, p.R453Q)

Hormone Research

Volumn 72, Issue 5, 2009, Pages 281-286

  Krone, Nils ^a,b   Grötzinger, Joachim ^c   Holterhus, Paul Martin ^b   Sippell, Wolfgang G ^b   Schwarz, Hans Peter ^d   Riepe, Felix G ^b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

11 Hydroxylase; 11 Hydroxylase deficiency; Congenital adrenal hyperplasia; CYP11B1

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 CYP11B1; HYDROXYPROGESTERONE; STEROID 11BETA MONOOXYGENASE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; CONGENITAL ADRENAL HYPERPLASIA; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC COUNSELING; HUMAN; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECURRENCE RISK;

ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; ARGININE; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; GLUTAMIC ACID; HUMANS; INFANT; MALE; METHIONINE; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; STEROID 11-BETA-HYDROXYLASE; TRANSFECTION;

EID: 70350342126     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000245930     Document Type: Article

References (23)

1. Merke DP, Bornstein SR: Congenital adrenal hyperplasia. Lancet 2005; 365: 2125-2136.
2. Krone N, Dhir V, Ivison HE, Arlt W: Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol (Oxf) 2007; 66: 162-172.
3. Zachmann M, Tassinari D, Prader A: Clinical and biochemical variability of congenital adrenal hyperplasia due to 11- -hydroxylase deficiency. A study of 25 patients. J Clin Endocrinol Metab 1983; 56: 222-229.
4. White PC, Curnow KM, Pascoe L: Disorders of steroid 11- -hydroxylase isozymes. Endocr Rev 1994; 15: 421-438.
5. Peter M, Dubuis JM, Sippell WG: Disorders of the aldosterone synthase and steroid 11- - hydroxylase deficiencies. Horm Res 1999; 51: 211-222.
6. Mornet E, Dupont J, Vitek A, White PC: Characterization of two genes encoding human steroid 11- -hydroxylase (P45011- ). J Biol Chem 1989; 264: 20961-20967.
7. Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L: Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA 1993; 90: 4552-4556.
8. 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- -hydroxylase deficiency. J Clin Endocrinol Metab 1996; 81: 2896-2901.
9. Peter M: Congenital adrenal hyperplasia: 11- -hydroxylase deficiency. Semin Reprod Med 2002; 20: 249-254.
10. 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)
11. 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. Clin Endocrinol Metab 2006; 91: 2682-2688.
12. Den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 2000; 15: 7-12.
13. Vriend G: WHAT IF: A molecular modeling and drug design program. J Mol Graph 1990; 8:52-56, 29.
14. Stalder L, Muhlemann O: The meaning of nonsense. Trends Cell Biol 2008; 18: 315-321.
15. Yang LX, Toda K, Miyahara K, Nomoto S, Kinoshita E, Baba T, Yoshimoto M, Araki K, Kurashige T, Hashimoto K, et al: Classic steroid 11- -hydroxylase deficiency caused by a C ] G transversion in exon 7 of CYP11B1. Biochem Biophys Res Commun 1995; 216: 723-728.
16. Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, Cutler GB Jr: Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11- -hydroxylase deficiency. J Clin Endocrinol Metab 1998; 83: 270-273.
17. Peter M, Janzen N, Sander S, Korsch E, Riepe FG, Sander J: A case of 11- -hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS. Horm Res 2008; 69: 253-256.
18. 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.
19. Nguyen HH, Hannemann F, Hartmann MF, Wudy SA, Bernhardt R: Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene. Mol Genet Metab 2008; 93: 458-467.
20. Muller EC, Lapko A, Otto A, Muller JJ, Ruckpaul K, Heinemann U: Covalently crosslinked complexes of bovine adrenodoxin with adrenodoxin reductase and cytochrome P450scc. Mass spectrometry and Edman degradation of complexes of the steroidogenic hydroxylase system. Eur J Biochem 2001; 268: 1837-1843.
21. Muller JJ, Lapko A, Bourenkov G, Ruckpaul K, Heinemann U: Adrenodoxin reductaseadrenodoxin complex structure suggests electron transfer path in steroid biosynthesis. J Biol Chem 2001; 276: 2786-2789.
22. Grinberg AV, Hannemann F, Schiffler B, Muller J, Heinemann U, Bernhardt R: Adrenodoxin: Structure, stability, and electron transfer properties. Proteins 2000; 40: 590-612.
23. Usanov SA, Graham SE, Lepesheva GI, Azeva TN, Strushkevich NV, Gilep AA, Estabrook RW, Peterson JA: Probing the interaction of bovine cytochrome P450scc (CYP11A1) with adrenodoxin: Evaluating site-directed mutations by molecular modeling. Biochemistry 2002; 41: 8310-8320.