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Pleiotropy of Copy Number Variation in Human Genome

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Abstract

A brief history of the development of ideas about pleiotropy, its types, and the overall prevalence of pleiotropic loci in the human genome, as well as pleiotropic variants and genes within the same group of pathologies (disorders of psychomotor development) and between different diseases are discussed. Data on the association of the birth of a child with intellectual disability in a woman with a history of miscarriage are presented. The involvement of the same copy number variations (CNVs) in disorders of prenatal and postnatal development has been shown. The hypothesis is proposed that these CNVs are pleiotropic and manifested by one pathology or another, depending on additional modifying factors.

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This work was supported by the Russian Science Foundation (project 21-65-00017, https://rscf.ru/project/21-65-00017/)

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  1. Research Institute of Medical Genetics, Tomsk National Research Medical Center, 634050, Tomsk, Russia

    A. A. Kashevarova, G. V. Drozdov, D. A. Fedotov & I. N. Lebedev

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Kashevarova, A.A., Drozdov, G.V., Fedotov, D.A. et al. Pleiotropy of Copy Number Variation in Human Genome. Russ J Genet 58, 1180–1192 (2022). https://doi.org/10.1134/S1022795422100040

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