Phenotypic variability and modifier variants in children with hereditary heart diseases
https://doi.org/10.21508/1027-4065-2021-66-3-12-19
Abstract
Despite the recent achievements in searching for the causes of monogenic human diseases, there is still a massive gap in understanding the molecular causes of phenotypic variability. At the moment, it is evident that the pathogenic genetic variant often acts together with the other genetic and non-genetic factors that can reduce or, on the contrary, aggravate the severity of the disease. Thus, to completely understand the disease, we shall consider the entire set of mechanisms leading to the resulting phenotype. This paper reviews the current state of the art in identifying genetic and non-genetic phenotype modifiers for rare monogenic cardiovascular diseases.
About the Authors
N. V. Shcherbakova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
A. B. Zhironkina
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
V. Yu. Voinova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
R. A. Ildarova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
M. A. Shkolnikova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Shcherbakova N.V., Zhironkina A.B., Voinova V.Yu., Ildarova R.A., Shkolnikova M.A. Phenotypic variability and modifier variants in children with hereditary heart diseases. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2021;66(3):12-19. (In Russ.) https://doi.org/10.21508/1027-4065-2021-66-3-12-19
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