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Publication in Journal of Medical Genetics

Journal of Medical Genetics» (impact-factor 5.899, Q1) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med. sci.):

«Analysis of genotype–phenotype correlations in PAX6-associated aniridia»
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Barbara Käsmann-Kellner, Natella V. Sukhanova, Lyudmila A. Katargina, Sergey I. Kutsev, Rena A. Zinchenko

The article showed that the main cause of congenital aniridia was PAX6 gene mutation. This gene is responsible for not only correct formation of the eye during embryo development, but also participates in formation of the central nervous system and gastrointestinal organs.

Establishment of genotype-phenotype correlations (links between the type of mutation and the disease clinical signs development) makes it possible to predict severity of the disease, prevent development of complications and at the same time indicates the direction of research for development of innovative methods of disease treatment.

Vasilyeva, T. A., Marakhonov, A. V., Voskresenskaya, A. A., Kadyshev, V. V., Käsmann-Kellner, B., Sukhanova, N. V., Katargina, L. A., Kutsev, S. I., &Zinchenko, R. A. (2020). Analysis of genotype–phenotype correlations in PAX6-associated aniridia // Journal of Medical Genetics, Published Online First: 28 May 2020. doi: 10.1136/jmedgenet-2019-106172