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

Chernushyn S.Yu., Livshits L.A.

SUMMARY. 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, R356W) among Ukrainian patients with 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.

Tsitologiya i Genetika 2016, vol. 50, no. 3, pp. 42-45

Chernushyn S.Yu., Livshits L.A. Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia, Tsitol Genet., 2016, vol. 50, no. 3, pp. 42-45.

In "Cytology and Genetics":
S. Yu. Chernushyn, L. A. Livshits Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia, Cytol Genet., 2016, vol. 50, no. 3, pp. 183–186
DOI: 10.3103/S0095452716030026