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

Resumo

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.