Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

European Journal of Endocrinology

Volumn 153, Issue 1, 2005, Pages 99-106

  Dolzan V ^a   Solyom J ^c   Fekete, G ^c   Kovacs J ^d   Rakosnikova, V ^e   Votava, F ^e   Lebl, J ^e   Pribilincova, Z ^f   Baumgartnet Parzer, S M ^g   Riedl, S ^g   Waldhauser, F ^g   Frisch, H ^g   Stopar Obreza, M ^b   Krzisnik C ^b   Battelino, Tadej ^b  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^c SEMMELWEIS UNIVERSITY   (Hungary)

^d UNIVERSITY OF SZEGED   (Hungary)

^e CHARLES UNIVERSITY   (Czech Republic)

^f Physics and Informatics   (Slovakia)

^g MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; CORTICOTROPIN; GLUTAMINE; HYDROXYPROGESTERONE; ISOLEUCINE; LEUCINE; PROLINE; SERINE; STEROID 21 MONOOXYGENASE; THREONINE; TRYPTOPHAN;

ALLELE; ARTICLE; AUSTRIA; BONE AGE; CLITORIS; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CZECH REPUBLIC; ETHNIC GROUP; EUROPE; FAMILY STUDY; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; HUNGARY; INTRON; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; POINT MUTATION; POPULATION RESEARCH; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SLOVAKIA; SLOVENIA; SOUTHERN BLOTTING; STOP CODON; VAGINA DISEASE; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD; EUROPE, EASTERN; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; PHENOTYPE; POINT MUTATION; STEROID 21-HYDROXYLASE;

EID: 22744441059     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.01944     Document Type: Article

References (31)

1. White PC, New MI & Dupont B. Congenital adrenal hyperplasia. New England Journal of Medicine 1987 316 1519-1524.
2. White PC & New MI. Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 1992 74 6-11.
3. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI & White PC. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Investigations 1992 90 584-595.
4. White PC, New MI & Dupont B. Structure of human steroid 21-hydroxylase genes. PNAS 1986 83 5111-5115.
5. Higashi Y, Yoshioka H, Yamane M, Gotoh O & Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. PNAS 1986 83 2841-2845.
6. Urabe K, Kimura A, Harada F, Iwanaga T & Sasazuki T. Gene conversion in steroid 21-hydroxylase genes. American Journal of Human Genetics 1990 46 1178-1186.
7. Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R & White PC. R339H aid P453: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Molecular Endocrinology 1992 6 1318-1322.
8. Wedell A, Thilen A, Ritzen 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 and Metabolism 1994 78 1145-1152.
9. Wilson RC, Mercado AB, Cheng KC & New MI. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. Journal of Clinical Endocrinology and Metabolism 1995 80 2322-2329.
10. Krone N, Braun A, Roscher AA, Knorr D & Schwarz P. Predicting phenotyp, in steroid 21-hydroxylase deficiency?. Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany. Journal of Clinical Endocrinology and Metabolism 2000 85 1059-1065.
11. Kovacs J, Votava F, Heinze G, Solyom J, Lebel J, Priblincova Z, Frisch H, Battelino T, Waldhauser F & the MEWPE-CAH study group. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. Journal of Clinical Endocrinology and Metabolism 2001 86 2958-2964.
12. Hargitai G, Solyom J, Battelino T, Lebl J, Pribilincova Z, Hauspie R, Kovacs J, Waldhauser F & Frisch H. The MEWPE-CAH study group. Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Hormone Research 2001 55 161-171.
13. Frisch H, Waldhauser F, Lebl J, Solyom J, Hargitai G, Kovacs J, Priblincova Z, Krzisnik C & Battelino T. For the MEWPE-CAH study group. Congenital adrenal hyperplasia: lessons from a multinational study. Hormone Research 2002 57 (Suppl 2) 95-101.
14. New MI, Lorenzen F, Lerner AJ, Kohn B, Oberfield SE, Pollack MS, Dupont B, Stoner E, Levy DJ, Pang S & Levine LS. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. Journal of Clinical Endocrinology and Metabolism 1983 57 320-326.
15. Baumgartner-Parzer SM, Schulze E, Waldhausl 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 and Metabolism 2001 86 4771-4775.
16. Ferenczi A, Garami M, Kiss E, Pek M, Sasvari-Szekely M, Barta C, Staub M, Solyom J & Fekete G. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 1999 84 2369-2372.
17. Dolžan V, Preželj J, Vidan-Jeras B & Breskvar K. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status. European Journal of Endocrinology 1999 141 132-139.
18. Dolžan V, Stopar-Obreza M, Žerjav-Tanšek M, Breskvar K, Kržišnik C & Battelino T. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. European Journal of Endocrinology 2003 149 137-144.
19. Jaaskelainen J, Levo A, Voutilainen R & Partanen J. Populationwide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. Journal of Clinical Endocrinology and Metabolism 1997 82 3293-3297.
20. Stikkelbroeck NMML, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus ARMM & Sistermans EA. CYP21 gene mutation analysis in 198 patients with 21hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. Journal of Clinical Endocrinology and Metabolism 2003 88 3852-3859.
21. Tusie-Luna MT, Speiser PW, Dumic M, New MI & White PC. A mutation (Pro30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Molecular Endocrinology 1991 5 685-692.
22. Barbaro M, Lajic S, Baldazzi L, Balsamo A, Pirazzoli P, Cicognani A, Weddel A & Cacciari E. Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 2004 89 2402-2407.
23. Nikoshkov A, Lajic S, Holst M, Wedell A & Luthman H. Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 1997 82 194-199.
24. Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B & Zappulla F. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian emigliromagna region. Clinical Endocrinology 2000 53 117-125.
25. Lako M, Ramsden S, Campbell RD & Strachan T. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. Journal of Medical Genetics 1999 36 119-124.
26. Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boue J, Simon-Bouy B, Serre JL & Mornet E. Screening of CYP21 gene mutations in 129 French patients affected by steroid-21-hydroxylase deficiency. Human Mutation 1995 5 126-130.
27. Weddel A & Luthman H. Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene. Human Genetics 1993 91 236-240.
28. Ordonez-Sanchez ML, Ramirez-Jimenez S, Lopez-Gitierrez AU, Riba L, Gamboa-Cardiel S, Cerrillo-Hinojosa M, Altamirano-Bustamante N, Caldaza-Leon R, Robles-Valdes C, Mendoza-Morfin F & Tusie-Luna MT. 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.
29. Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR & Campbell RD. Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO Journal 1987 6 1653-1661.
30. Asanuma A, Ohura T, Ogawa E, Sato S, Igarashi Y, Matsubara Y & Iinuma K. Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. Journal of Human Genetics 1999 44 312-317.
31. 268 result in complete, partial, or no loss of enzymatic activity, respectively. Journal of Clinical Investigations 1991 88 519-523.