Cytology and Genetics

, Volume 50, Issue 3, pp 183–186 | Cite as

Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia

Article

Abstract

In the article, the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, and R356W) among Ukrainian patients with CAH (congenital adrenal hyperplasia) of different clinical phenotypes are presented. The most common mutation in the studied group (n = 27) is the CYP21A2 gene deletion/conversion. Possible patterns of the studied mutations distribution in different populations of the world and the patients’ genotype–phenotype association are discussed.

Keywords

21-hydroxylase CYP21A2 congenital adrenal hyperplasia 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Merke, D.P. and Bornsterin, S.R., Congenital adrenal hyperplasia, Lancet, 2000, vol. 365, pp. 2125–2136.CrossRefGoogle Scholar
  2. 2.
    Levine, L.S., Congenital adrenal hyperplasia, Pediatr. Rev., 2000, vol. 21, no. 5, pp. 159–170.CrossRefPubMedGoogle Scholar
  3. 3.
    Baumgartner-Parzer, S.M., Nowotny, P., Heinze, G., Waldhäusl, W., and Vierhapper, H., Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population, J. Clin. Endocrinol. Metab., 2005, vol. 90, no. 2, pp. 775–778.CrossRefPubMedGoogle Scholar
  4. 4.
    New, M.I., Extensive clinical experience: nonclassical 21-hydroxylase deficiency, J. Clin. Endocrinol. Metab., 2006, vol. 91, no. 11, pp. 4205–4214.CrossRefPubMedGoogle Scholar
  5. 5.
    Stenson, J.A., Thomas, N.S.T., Abeysinghe, S., Krawczak, M., and Cooper, D.N., Human gene mutation database (HGMD®): 2003 update, Hum. Mutat., 2003, vol. 21, no. 6, pp. 577–581.CrossRefPubMedGoogle Scholar
  6. 6.
    Haider S., Islam B., D’Atri V., Sgob M., Poojari, C., Sun, L., Yuen, T., Zaidi, M., and New, M.I., Structure-phenotype correlation of human CYP21A2 mutations in congenital adrenal hyperplasia, Proc. Natl. Cad. Sci. U. S. A., 2013, vol. 110, no. 7, pp. 2605–2610.CrossRefGoogle Scholar
  7. 7.
    Sambrook, J., Fritsch, E.F., and Maniatis, T., Molecular Cloning: A Laboratory Manual, 2nd ed., New York: Cold Spring Harbor Lab. Press, 1989.Google Scholar
  8. 8.
    Chernushyn, S.Yu. and Livshits, L.A., Analysis CYP21A2 gene mutations technique in patients with congenital adrenal hyperplasia, Biotechnol. Acta, 2014, vol. 7, no. 1, pp. 75–79.CrossRefGoogle Scholar
  9. 9.
    Stikkelbroeck, N.M., Hoefsloot, L.H., de Wijs, I.J., Otten, B.J., Hermus, A.R., and Sistermans, E.A., 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, vol. 88, no. 8, pp. 3852–3859.CrossRefPubMedGoogle Scholar
  10. 10.
    Baş, F., Kayserili, H., Darendeliler, F., Uyguner, O., Günöz, H., Yüksel Apak, M., Atalar, F., Bundak, R., Wilson R.C., New, M.I., Wollnik, B., and Saka, N., CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children, J. Clin. Res. Pediatr. Endocrinol., 2009, vol. 1, no. 3, pp. 116–128.PubMedPubMedCentralGoogle Scholar
  11. 11.
    Vrzalová, Z., Hrubá, Z., St’ahlová Hrabincová, E., Pouchlá, S., Votava, F., Kolousková, S., and Fajkusová, L., Identification of CYP21A2 mutant alleles, in Czech patients with 21-hydroxylase deficiency, Int. J. Mol. Med., 2010, vol. 26, no. 4, pp. 595–603.PubMedGoogle Scholar
  12. 12.
    Sadeghi F., Yurur-Kutluay, N., Berberoglu, M., Cetinkaya, E., Aycan, Z., Kara, C., Ilgin Ruhi, H., Ocal, G., Sklar, Z., Elhan, A., and Tukun, A., Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey, J. Clin. Endocrinol. Metab., 2008, vol. 21, no. 8, pp. 781–787.Google Scholar
  13. 13.
    Krone, N., Braun A., Roscher, A.A., Knorr, D., and Schwarz, H.P., Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany, J. Clin. Endocrinol. Metab., 2000, vol. 85, no. 3, pp. 1059–1065.CrossRefPubMedGoogle Scholar
  14. 14.
    Levo A. and Partane, J., Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for population history of defective alleles, Hum. Genet., 1997, vol. 99, no. 4, pp. 488–497.CrossRefPubMedGoogle Scholar
  15. 15.
    Higashi, Y., Hiromasa T., Tanae, A., Miki, T., Nakura, J., Kondo, T., Ohura, T., Ogawa, E., Nakayama, K., and Fujii-Kuriyama, Y., Effects of individual mutations in the P350(C21) pseudogene on the P-450(C21) activity and distribution in the genomes of congenital steroid 21-hydroxylase deficiency, J. Biochem. (Tokyo), 1991, vol. 109, no. 4, pp. 638–644.Google Scholar
  16. 16.
    Ordonez-Sanchez, M.L., Ramirez-Jimenez, S., Lopez-Gutierrez, A.U., Riba, L., Gamboa-Cardiel, S., Cerrillo-Hinojosa, M., Altamirano-Bustamante, N., Calzada-Leon, R., Robles-Valdes, C., Mendoza-Morfin, F., and Tusie-Luna, M.T., Molecular genetic analysis of 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, vol. 102, no. 2, pp. 170–177.CrossRefPubMedGoogle Scholar
  17. 17.
    Baumgartner-Parzer, S.M., Nowotny P., Heinze, G., Waldhäusl, W., and Vierhapper, H., Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population, J. Clin. Endocrinol. Metab., 2005, vol. 90, no. 2, pp. 775–778.CrossRefPubMedGoogle Scholar
  18. 18.
    Speiser, P.W. and White, P., Congenital adrenal hyperplasia New England, J. Med., 2003, vol. 349, no. 8, pp. 776–788.Google Scholar
  19. 19.
    Charmandari, E., Eisenhofer, G., Mehlinger, S.L., Carlson, A., Wesley, R., Keil, M.F., Chrousos, G.P., New M.I., and Merke, D.P., Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency, J. Clin. Endocrinol. Metab., 2002, vol. 87, no. 7, pp. 3031–3037.CrossRefPubMedGoogle Scholar

Copyright information

© Allerton Press, Inc. 2016

Authors and Affiliations

  1. 1.The Institute of Molecular Biology and Genetics of NASUKievUkraine

Personalised recommendations