Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency

  • Authors:
    • Zuzana Vrzalová
    • Zuzana Hrubá
    • Eva St'ahlová Hrabincová
    • Slavka Pouchlá
    • Felix Votava
    • Stanislava Kolousková
    • Lenka Fajkusová
  • View Affiliations

  • Published online on: October 1, 2010     https://doi.org/10.3892/ijmm_00000504
  • Pages: 595-603
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Abstract

Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD). 21OHD was confirmed in 241 probands (2 mutations were detected). In 26 probands, a mutation was found only in 1 CYP21A2 allele. A set of 30 different mutant alleles was determined. We describe i) mutated CYP21A2 alleles carrying novel point mutations (p.Thr168Asn, p.Ser169X and p.Pro386Arg), ii) mutated CYP21A2 alleles carrying the novel chimeric gene designated as CH-7, which was detected in 21.4% of the mutant alleles, iii) an unusual genotype with a combination of the CYP21A2 duplication, 2 point mutations and the CYP21A2 large-scale gene conversion on the second allele, and (iv) a detailed analysis of the chimeric CYP21A1P/CYP21A2 genes. In conclusion, our genotyping approach allowed for the accurate identification of the CYP21A2 gene mutations in 21OHD patients and their families and provided some useful information on diagnosis and genetic counselling.

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October 2010
Volume 26 Issue 4

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
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 26: 595-603, 2010
APA
Vrzalová, Z., Hrubá, Z., St'ahlová Hrabincová, E., Pouchlá, S., Votava, F., Kolousková, S., & Fajkusová, L. (2010). Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency. International Journal of Molecular Medicine, 26, 595-603. https://doi.org/10.3892/ijmm_00000504
MLA
Vrzalová, Z., Hrubá, Z., St'ahlová Hrabincová, E., Pouchlá, S., Votava, F., Kolousková, S., Fajkusová, L."Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency". International Journal of Molecular Medicine 26.4 (2010): 595-603.
Chicago
Vrzalová, Z., Hrubá, Z., St'ahlová Hrabincová, E., Pouchlá, S., Votava, F., Kolousková, S., Fajkusová, L."Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency". International Journal of Molecular Medicine 26, no. 4 (2010): 595-603. https://doi.org/10.3892/ijmm_00000504