Publication details
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
| Authors | |
|---|---|
| Year of publication | 2010 |
| Type | Peer-reviewed scientific article |
| Magazine / Source | International Journal of Molecular Medicine |
| MU Faculty or unit | |
| Citation | |
| Doi | https://doi.org/10.3892/ijmm_00000504 |
| Field | Oncology and hematology |
| Keywords | CYP21A2; CAH |
| Description | 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. |
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