21 hydroxylase


Gene Symbol: 21 hydroxylase
Description: cytochrome P450 family 21 subfamily A member 2
Alias: CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B, steroid 21-hydroxylase, 21-OHase, cytochrome P450 XXI, cytochrome P450, family 21, subfamily A, polypeptide 2, cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2, cytochrome P450-C21B, steroid 21 hydroxylase, steroid 21-monooxygenase
Species: human
Products:     21 hydroxylase

Top Publications

  1. Wedell A, Luthman H. Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene. Hum Genet. 1993;91:236-40 pubmed
    ..Thus, also rare mutations can spread via the pseudogene and can therefore be expected to arise independently in unrelated individuals. ..
  2. Barbaro M, Baldazzi L, Balsamo A, Lajic S, Robins T, Barp L, et al. Functional studies of two novel and two rare mutations in the 21-hydroxylase gene. J Mol Med (Berl). 2006;84:521-8 pubmed
    ..All four mutations are, thus, associated with severe enzyme deficiency and are predicted to cause classic CAH if found in trans with other mutations causing severe enzyme deficiency. ..
  3. Finkielstain G, Chen W, Mehta S, Fujimura F, Hanna R, Van Ryzin C, et al. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2011;96:E161-72 pubmed publisher
    ..Extensive genetic analysis beyond targeted CYP21A2 mutational detection is often required to accurately determine genotype in patients with CAH due to the high frequency of complex genetic variation. ..
  4. Krone N, Braun A, Roscher A, Knorr D, Schwarz H. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab. 2000;85:1059-65 pubmed
    ..CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated ..
  5. Koppens P, Smeets H, de Wijs I, Degenhart H. Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene. J Med Genet. 2003;40:e53 pubmed
  6. Kleinle S, Lang R, Fischer G, Vierhapper H, Waldhauser F, Fodinger M, et al. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect. J Clin Endocrinol Metab. 2009;94:3954-8 pubmed publisher
    ..performed in 38 unrelated individuals and in 11 family members detected to carry a Q318X mutation in the course of CYP21 genotyping using sequence, multiplex ligation-dependent probe amplification, and Southern blot analyses...
  7. Loidi L, Quinteiro C, Parajes S, Barreiro J, Lestón D, Cabezas Agricola J, et al. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect. Clin Endocrinol (Oxf). 2006;64:330-6 pubmed
    ..A great diversity of haplotypes with a large spectrum of mutated alleles was found. The frequency of the V281L mutation was the highest reported and the relatively high frequency of R444X was the result of a founder effect. ..
  8. Toraman B, Okten A, Kalay E, Karaguzel G, Dinçer T, Açıkgöz E, et al. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. Gene. 2013;513:202-8 pubmed publisher
    ..Absence of disease causing mutation of CYP21A2 in ten of screened ninety chromosomes suggests the contribution of regulatory elements in occurrences of CAH due to the 21OHD. ..
  9. Lobato M, Ordóñez Sánchez M, Tusie Luna M, Meseguer A. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease. Hum Hered. 1999;49:169-75 pubmed
    Steroid 21-hydroxylase deficiency, due to the genetic impairment of the CYP21 gene, is a major cause of congenital adrenal hyperplasia (CAH)...

More Information


  1. Stikkelbroeck N, Hoefsloot L, de Wijs I, Otten B, Hermus A, Sistermans E. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab. 2003;88:3852-9 pubmed
    ..The aim of this study was to assess the frequencies of CYP21 mutations and to study genotype-phenotype correlation in a large population of Dutch 21-hydroxylase deficient ..
  2. Vakili R, Baradaran Heravi A, Barid Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan M. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. Horm Res. 2005;63:119-24 pubmed
    A rapid and convenient approach for the detection of the most common CYP21 gene mutations in patients with congenital adrenal hyperplasia (CAH) with classical forms of 21-hydroxylase deficiency was used...
  3. Nikoshkov A, Lajic S, Holst M, Wedell A, Luthman H. Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1997;82:194-9 pubmed
  4. Friães A, Rêgo A, Aragüés J, Moura L, Mirante A, Mascarenhas M, et al. CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. Mol Genet Metab. 2006;88:58-65 pubmed
    ..In this study, the CYP21 gene was genotyped in 56 Portuguese unrelated patients with clinical symptoms of 21-hydroxylase deficiency, in a ..
  5. Wedell A, Thilen A, Ritzen E, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 1994;78:1145-52 pubmed
  6. White P, New M, Dupont B. Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci U S A. 1986;83:5111-5 pubmed
    ..A second frameshift and a nonsense mutation occur downstream. In contrast, the sequence of the exons of the B gene is identical to the cDNA sequence. The 21-OHase A gene is, therefore, a pseudogene. ..
  7. 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;20:2946-64 pubmed
    Enhanced understanding of structure-function relationships of human 21-hydroxylase, CYP21, is required to better understand the molecular causes of congenital adrenal hyperplasia...
  8. Guerra Junior G, Grumach A, de Lemos Marini S, Kirschfink M, Condino Neto A, de Araujo M, et al. Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency. Clin Exp Immunol. 2009;155:182-8 pubmed publisher
    ..Taq I Southern blotting was used to perform molecular analysis of the C4/CYP21 gene cluster and the genotypes were defined according to gene organization within RCCX modules...
  9. Mornet E, Crété P, Kuttenn F, Raux Demay M, Boue J, White P, et al. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet. 1991;48:79-88 pubmed
    To characterize mutations in the CYP21B gene that are responsible for congenital adrenal hyperplasia (CAH), DNA samples from 91 French patients have been studied by allelic-specific oligonucleotide hybridization and Southern blot analysis...
  10. Ben Charfeddine I, Riepe F, Clauser E, Ayedi A, Makni S, Sfar M, et al. Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms. Gene. 2012;507:20-6 pubmed publisher
    ..With this study the molecular basis of CAH has been characterized, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling. ..
  11. Keen Kim D, Redman J, Alanes R, Eachus M, Wilson R, New M, et al. Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J Mol Diagn. 2005;7:236-46 pubmed
    ..and gene conversion events have been defined and are typically detected by Southern hybridization detection of CYP21 rearrangements and/or polymerase chain reaction (PCR)...
  12. Robins T, Bellanne Chantelot C, Barbaro M, Cabrol S, Wedell A, Lajic S. Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. J Mol Med (Berl). 2007;85:247-55 pubmed
    ..Although most patients carry a deletion of the CYP21 gene or any of nine pseudogene-derived point mutations, the number of reported rare mutations continues to ..
  13. Lee H, Chang S, Lo F, Chao H, Lin C. Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency. Mol Genet Metab. 2003;79:214-20 pubmed
    ..hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. A 9...
  14. Szabó J, Szilagyi A, Doleschall Z, Patocs A, Farkas H, Prohaszka Z, et al. Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. PLoS ONE. 2013;8:e81977 pubmed publisher
    ..Concerted evolution caused by non-allelic gene conversion has been described in great ape CYP21 genes, and the same conversion activity is responsible for a serious genetic disorder of CYP21A2, congenital ..
  15. Billerbeck A, Mendonca B, Pinto E, Madureira G, Arnhold I, Bachega T. Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. J Clin Endocrinol Metab. 2002;87:4314-7 pubmed
    Three different new mutations were found after CYP21 gene sequencing in three unrelated patients with the classical form of the 21-hydroxylase deficiency. These mutations were also screened in their affected relatives...
  16. Koppens P, Hoogenboezem T, Degenhart H. CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. Eur J Hum Genet. 2000;8:827-36 pubmed
    Steroid 21-hydroxylase deficiency is caused by defectiveness of the CYP21 gene. Such defects have presumably originated from interactions with the nearby CYP21P pseudogene during evolution...
  17. Wu D, Chung B. Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. J Clin Invest. 1991;88:519-23 pubmed
    ..Our findings suggest that the methyl group at the beta-carbon of Val281 is required for heme incorporation and consequently enzymatic activity. ..
  18. Lako M, Ramsden S, Campbell R, Strachan T. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. J Med Genet. 1999;36:119-24 pubmed
    21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3...
  19. Ordóñez Sánchez M, Ramírez Jiménez S, López Gutierrez A, Riba L, Gamboa Cardiel S, Cerrillo Hinojosa M, et al. 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. Hum Genet. 1998;102:170-7 pubmed
    ..Mexican patients and the corresponding mutant alleles in their parents by amplification of the functional CYP21 gene by PCR, followed by direct sequence analysis...
  20. Wedell A, Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet. 1993;2:499-504 pubmed
    ..Allele-specific PCR was established also for these mutations and used to screen for their presence in the pseudogene. However, the two novel mutations were not found in at least 34 pseudogenes. ..
  21. White P, Vitek A, Dupont B, New M. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A. 1988;85:4436-40 pubmed
    Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21B gene. This gene and a highly homologous pseudogene, CYP21A, alternate with the C4A and C4B genes encoding the fourth component of complement...
  22. Helmberg A, Tusie Luna M, Tabarelli M, Kofler R, White P. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrinol. 1992;6:1318-22 pubmed
    ..characterized that cause this disorder appear to result from recombinations between the gene encoding the enzyme, CYP21B (CYP21), and the adjacent pseudogene, CYP21A (CYP21P)...
  23. Tardy V, Menassa R, Sulmont V, Lienhardt Roussie A, Lecointre C, Brauner R, et al. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. J Clin Endocrinol Metab. 2010;95:1288-300 pubmed publisher
    ..Thirteen CYP21 mutations have been studied. A detailed description of phenotype was performed for all mutations (p.I77T, p...
  24. Higashi Y, Tanae A, Inoue H, Fujii Kuriyama Y. Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet. 1988;42:17-25 pubmed
    ..2-kb TaqI fragment) whereas that of the B gene (the 3.7-kb TaqI fragment) was relatively constant at two or three copies. ..
  25. Araújo R, Mendonca B, Barbosa A, Lin C, Marcondes J, Billerbeck A, et al. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2007;92:4028-34 pubmed
    Most mutations causing 21-hydroxylase deficiency originate from microconversions between CYP21 pseudogenes and active genes...
  26. Baradaran Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A rabi A, et al. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran. Clin Endocrinol (Oxf). 2007;67:335-41 pubmed
    ..Three novel mutations were found in the CYP21A2 gene and predicted to drastically impair enzyme activity resulting in severe classic CAH. None of these mutations occurs in the CYP21A1P pseudogene. ..
  27. Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, et al. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2001;86:207-13 pubmed
    Complete analysis of the CYP21 gene was performed in 56 unrelated French women with symptomatic nonclassical congenital adrenal hyperplasia. The mutational spectrum and the phenotype-genotype correlation were examined...
  28. 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. Proc Natl Acad Sci U S A. 1986;83:2841-5 pubmed
    ..Tandem arrangement of the highly homologous pseudo- and genuine genes in close proximity could account for the high incidence of P-450(C21) gene deficiency by homologous gene recombination. ..
  29. Nikoshkov A, Lajic S, Vlamis Gardikas A, Tranebjaerg L, Holst M, Wedell A, et al. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability. J Biol Chem. 1998;273:6163-5 pubmed
    ..These results directly link the clinical situation with the three mutations and suggest that G291 is important for the catalytic activity of P450c21. ..
  30. Barbaro M, Lajic S, Baldazzi L, Balsamo A, Pirazzoli P, Cicognani A, et al. Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2004;89:2402-7 pubmed
    ..By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L ..
  31. Ezquieta B, Cueva E, Varela J, Oliver A, Fernandez J, Jariego C. Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations. Acta Paediatr. 2002;91:892-8 pubmed
    ..In 86 Spanish NC21OHD children (75 families) an analysis of the 21-hydroxylase (21-OH) gene was performed by CYP21B-specific polymerase chain reaction amplification, allele-specific oligonucleotide hybridization and Southern ..
  32. Koppens P, Hoogenboezem T, Degenhart H. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. Hum Genet. 2002;111:405-10 pubmed
    ..of an individual who is not a known carrier of steroid 21-hydroxylase deficiency is performed, the overall structure of the CYP21/ C4 region (the RCCX area) is determined by haplotyping to avoid erroneous assignment of carrier status.
  33. Billerbeck A, Bachega T, Frazatto E, Nishi M, Goldberg A, Marin M, et al. A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1999;84:2870-2 pubmed
    ..To diagnose these alleles we sequenced the entire CYP21 gene of one Mulatto patient with the simple virilizing form, who had only the R356W mutation in a heterozygous ..
  34. Gomes L, Huang N, Agrawal V, Mendonca B, Bachega T, Miller W. The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2008;93:2913-6 pubmed publisher
    ..The only POR missense polymorphism found in atypical 21OHD patients was A503V. Although A503V reduces P450c17 enzymatic activity, it does not influence P450c21 activity, indicating that POR A503V does not modify the 21OHD phenotype. ..
  35. Haider S, Islam B, D Atri V, Sgobba M, Poojari C, Sun L, et al. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. Proc Natl Acad Sci U S A. 2013;110:2605-10 pubmed publisher
    ..A simple in silico evaluation of previously uncharacterized gene mutations could, thus, potentially help predict the often diverse phenotypes of a monogenic disorder. ..
  36. Bizzarri C, Crea F, Marini R, Benevento D, Porzio O, Rava L, et al. Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche. J Pediatr Endocrinol Metab. 2012;25:1059-64 pubmed publisher
    ..001). Earlier PP onset and bone age advance suggest NC21OHD, which requires confirmation by an ACTH stimulation test. Later, PP appearance in overweight children suggests IPP and could merit only clinical monitoring. ..
  37. Wedell A, Ritzen E, Haglund Stengler B, Luthman H. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci U S A. 1992;89:7232-6 pubmed
    ..Detailed analyses of clinical data revealed that genotyping could predict the clinical course of the disease. The locations of disease-causing mutations on different haplotypes of the steroid 21-hydroxylase gene region are described. ..
  38. Speiser P, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie Luna M, et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest. 1992;90:584-95 pubmed
    Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency...
  39. Rabbani B, Mahdieh N, Ashtiani M, Larijani B, Akbari M, New M, et al. Mutation analysis of the CYP21A2 gene in the Iranian population. Genet Test Mol Biomarkers. 2012;16:82-90 pubmed publisher
    ..Mutation frequencies indicate that Iranians are possible descendants of Asians and Europeans. ..
  40. Sadeghi F, Yurur Kutlay N, Berberoglu M, Cetinkaya E, Aycan Z, Kara C, et al. Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey. J Pediatr Endocrinol Metab. 2008;21:781-7 pubmed
    ..5%), R356W (3.5%), 8-bp (3%), complex alleles (2%), P30L (1%) and E6 cluster (1%). The distribution of mutation frequencies in our study was slightly different from those previously reported in Turkey and in other parts of the world. ..
  41. Riepe F, Hiort O, Grötzinger J, Sippell W, Krone N, Holterhus P. Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. J Clin Endocrinol Metab. 2008;93:2891-5 pubmed publisher
    ..The majority of patients suffer from deficiency of 21-hydroxylase (CYP21) coded by the CYP21A2 gene...
  42. Grigorescu Sido A, Weber M, Grigorescu Sido P, 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;90:5769-73 pubmed
    ..adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene...
  43. Yang Z, Mendoza A, Welch T, Zipf W, Yu C. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease ass. J Biol Chem. 1999;274:12147-56 pubmed
    ..modules occurred by the addition of genomic fragments containing a long (L) or a short (S) C4 gene, a CYP21A or a CYP21B gene, and the gene fragments TNXA and RP2...
  44. Kharrat M, Tardy V, M rad R, Maazoul F, Jemaa L, Refai M, et al. 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;89:368-74 pubmed
    ..hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21) gene...
  45. Wilson R, Nimkarn S, Dumic M, Obeid J, Azar M, Azar M, et al. Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab. 2007;90:414-21 pubmed
    ..Genotype/phenotype non-correlation was seen when at least one IVS2 AS -13 (A/C to G) mutation in the CYP21A2 gene was present. ..
  46. Wilson R, Mercado A, Cheng K, New M. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab. 1995;80:2322-9 pubmed
    ..This study, has demonstrated that the 10 most common mutations observed in the 21-hydroxylase gene result in phenotypes that are not always concordant with the genotype. ..
  47. Soardi F, Barbaro M, Lau I, Lemos Marini S, Baptista M, Guerra Junior G, et al. Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. J Clin Endocrinol Metab. 2008;93:2416-20 pubmed publisher
    ..G56R, p.L107R, and p.L142P are reported for the first time. Most probably these novel mutations are closer to null than the p.I172N, but for the p.G56R, that might not be the case, and the p.H62L is definitely a nonclassical mutation. ..
  48. Menassa R, Tardy V, Despert F, Bouvattier Morel C, Brossier J, Cartigny M, et al. p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2008;93:1901-8 pubmed publisher
    ..Analysis of p.H62L in a three-dimensional model structure of the CYP21 protein explained the observed in vitro effects, the H62 being located in a domain implied in membrane anchoring...
  49. Tusie Luna M, Traktman P, White P. Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. J Biol Chem. 1990;265:20916-22 pubmed
    ..biosynthesis occurs in a wide spectrum of clinical severity; specific mutations in the 21-hydroxylase gene (CYP21) have been found in association with particular clinical phenotypes...
  50. Grischuk Y, Rubtsov P, Riepe F, Grötzinger J, Beljelarskaia S, Prassolov V, et al. 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. 2006;91:4976-80 pubmed
    ..The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene...
  51. Baumgartner Parzer S, Nowotny P, Heinze G, Waldhausl W, Vierhapper H. Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. J Clin Endocrinol Metab. 2005;90:775-8 pubmed
    ..In conclusion, the observed CAH carrier frequency of 9.5% suggests a higher prevalence of CAH heterozygosity in a middle European population than hitherto estimated independently of the individuals' Yugoslav or non-Yugoslav origin. ..
  52. White P, Tusie Luna M, New M, Speiser P. Mutations in steroid 21-hydroxylase (CYP21). Hum Mutat. 1994;3:373-8 pubmed
    ..In man, this enzyme is encoded by the CYP21 (CYP21B) gene which is located in the HLA major histocompatibility complex along with a pseudogene, CYP21P (CYP21A)...
  53. Patocs A, Toth M, Barta C, Sasvari Szekely M, Varga I, Szucs N, et al. Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas. Eur J Endocrinol. 2002;147:349-55 pubmed
    The aims of the present study were (a) to examine the occurrence of 21-hydroxylase gene (CYP21) mutations in patients with unilateral and bilateral adrenal incidentalomas and (b) to correlate the results of mutation screening with ..