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Interloci CNV Interactions in Variability of the Phenotypes of Neurodevelopmental Disorders

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Abstract

Most copy number variations (CNV) of pathogenetic significance are associated with neurodevelopmental phenotypes and characterized by incomplete penetrance and variable expressivity. However, the nature of these phenomena has not yet been disclosed. As a result, this leads to the uncertainty of prognosis in families with affected children having a genetic variant associated with the disease that was, however, inherited from apparently healthy parents, which is a problem for genetic counseling in medicine. This review discusses the evidence for the contribution of interloci interaction between different CNVs to variability of clinical manifestations of neuropsychiatric and intellectual disorders.

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Funding

This work was supported by the Russian Science Foundation, project no. 21-75-00112, https://rscf.ru/project/21-75-00112/.

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  1. Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, 634050, Tomsk, Russia

    E. O. Belyaeva & I. N. Lebedev

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  1. E. O. Belyaeva
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Belyaeva, E.O., Lebedev, I.N. Interloci CNV Interactions in Variability of the Phenotypes of Neurodevelopmental Disorders. Russ J Genet 58, 1169–1179 (2022). https://doi.org/10.1134/S1022795422100027

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