Carboxyl-terminal mutations in 3β-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 4, 2008, Pages 1418-1425

  Welzel, Maik ^a   Wüstemann, Nele ^a   Ŝimić Schleicher, Gunter ^b   Dörr, Helmuth G ^c   Schulze, Egbert ^d   Shaikh, Guftar ^e   Clayton, Peter ^e   Grötzinger, Joachim ^a   Holterhus, Paul Martin ^a   Riepe, Felix G ^a,f  

^a UNIVERSITY OF KIEL   (Germany)

^b Hess Children Hospital Bremen   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d Laboratory of Molecular Genetics   (Germany)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; PRASTERONE; PREGNENOLONE;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CONGENITAL ADRENAL HYPERPLASIA; DNA HELIX; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; GENE; GENE MUTATION; HSD3B2 GENE; HUMAN; IN VITRO STUDY; KARYOTYPE 46,XY; MISSENSE MUTATION; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN STRUCTURE; SALT LOSING NEPHRITIS; THREE DIMENSIONAL IMAGING; VIRILIZATION;

EID: 42049098191     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-1874     Document Type: Article

References (28)

1. Bongiovanni AM 1962 The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase. J Clin Invest 41:2086-2092
2. 4 isomerase gene family. Endocr Rev 26:525-582
3. Codner E, Okuma C, Iniguez G, Boric MA, Avila A, Johnson MC, Cassorla FG 2004 Molecular study of the 3β-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. J Clin Endocrinol Metab 89:957-964
4. Morrison N, Nickson DA, McBride MW, Mueller UW, Boyd E, Sutcliffe RG 1991 Regional chromosomal assignment of human 3-β-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation. Hum Genet 87:223-225
5. Rheaume E, Simard J, Morel Y, Mebarki F, Zachmann M, Forest MG, New MI, Labrie F 1992 Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene. Nat Genet 1:239-245
6. Scrutton NS, Berry A, Perham RN 1990 Redesign of the coenzyme specificity of a dehydrogenase by protein engineering. Nature 343:38-43
7. 5-steroid dehydrogenase. J Biol Chem 268:18507-18512
8. Thomas JL, Evans BW, Blanco G, Mercer RW, Mason JI, Adler S, Nash WE, Isenberg KE, Strickler RC 1998 Site-directed mutagenesis identifies amino acid residues associated with the dehydrogenase and isomerase activities of human type I (placental) 3β-hydroxysteroid dehydrogenase/isomerase. J Steroid Biochem Mol Biol 66:327-334
9. Thomas JL, Evans BW, Blanco G, Mason JI, Strickler RC 1999 Creation of a fully active, cytosolic form of human type I 3β- hydroxysteroid dehydrogenase/isomerase by the deletion of a membrane-spanning domain. J Mol Endocrinol 23:231-239
10. Sinnecker GH, Hiort O, Dibbelt L, Albers N, Dorr HG, Hauss H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K 1996 Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency. Am J Med Genet 63:223-230
11. Sippell WG, Bidlingmaier F, Becker H, Brunig T, Dorr H, Hahn H, Golder W, Hollmann G, Knorr D 1978 Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone. J Steroid Biochem 9:63-74
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
13. Riepe FG, Wonka S, Partsch CJ, Sippell WG 2001 Automated chromatographic system for the simultaneous measurement of plasma pregnenolone and 17-hydroxypregnenolone by radioimmunoassay. J Chromatogr B Biomed Sci Appl 763:99-106
14. Riepe FG, Mahler P, Sippell WG, Partsch CJ 2002 Longitudinal study of plasma pregnenolone and 17-hydroxypregnenolone in full-term and preterm neonates at birth and during the early neonatal period. J Clin Endocrinol Metab 87:4301-4306
15. Chang YT, Kappy MS, Iwamoto K, Wang J, Yang X, Pang S 1993 Mutations in the type II 3β-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. Pediatr Res 34:698-700
16. Antonarakis SE 1998 Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3
17. El-Alfy M, Luu-The V, Huang XF, Berger L, Labrie F, Pelletier G 1999 Localization of type 5 17β-hydroxysteroid dehydrogenase, 3β-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry. Endocrinology 140:1481-1491
18. Grischuk Y, Rubtsov P, Riepe FG, Grotzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N 2006 Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis. J Clin Endocrinol Metab 91:4976-4980
19. Guex N, Peitsch MC 1997 SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18:2714-2723
20. Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mebarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J 1999 New insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. J Clin Endocrinol Metab 84:4410-4425
21. Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI 2002 A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causing, respectively, nonclassic and classic 3β-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 87:2556-2563
22. Tajima T, Fujieda K, Nakae J, Shinohara N, Yoshimoto M, Baba T, Kinoshita E, Igarashi Y, Oomura T 1995 Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency. Hum Mol Genet 4:969-971
23. Filling C, Berndt KD, Benach J, Knapp S, Prozorovski T, Nordling E, Ladenstein R, Jornvall H, Oppermann U 2002 Critical residues for structure and catalysis in short-chain dehydrogenases/reductases. J Biol Chem 277:25677-25684
24. Kallberg Y, Oppermann U, Jornvall H, Persson B 2002 Short-chain dehydrogenases/ reductases (SDRs). Eur J Biochem 269:4409-4417
25. Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP 2000 Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 85:1059-1065
26. Labrie F, Simard J, Luu-The V, Pelletier G, Belghmi K, Belanger A 1994 Structure, regulation and role of 3β-hydroxysteroid dehydrogenase, 17β-hydroxysteroid dehydrogenase and aromatase enzymes in the formation of sex steroids in classical and peripheral intracrine tissues. Baillieres Clin Endocrinol Metab 8:451-474
27. Werner R, Holterhus PM, Binder G, Schwarz HP, Morlot M, Struve D, Marschke C, Hiort O 2006 The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats. J Clin Endocrinol Metab 91:3515-3520
28. Rauh M, Groschl M, Rascher W, Dorr HG 2006 Automated, fast and sensitive quantification of 17α-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction. Steroids 71:450-458