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CNV load in families with a child with a neurodevelopmental disorder and a history of miscarriage
https://doi.org/10.25557/2073-7998.2025.11.123-125
Abstract
Copy number variation (CNV) found in patients with neurodevelopmental disorders (NDD) are also detected in miscarriages. The study was performed for CNVs associated with both the birth of a child with NDD and spontaneous abortion (SA). CNVs have been shown to be more common in patients born to mothers with a history of SA (p = 0.03). Microduplications at 2q23.1, 3q29, 16p11.2 are likely to affect both prenatal and postnatal development.
Supporting agencies: The work was supported by the theme of the state assignment (#122020300041-7)
About the Authors
D. A. Fedotov
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
M. E. Lopatkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
O. Yu. Vasilyeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
E. N. Tolmacheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
A. D. Lobanov
Siberian State Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
2, Moskovsky trakt, Tomsk, 634050
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
V. V. Petrova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
E. G. Ravzhaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
O. A. Salyukova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
V. M. Sivoha
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
S. V. Fadyushina
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
References
1. Kashevarova A.A., Drozdov G.V., Fedotov D.A. et al. Pleiotropy of Copy Number Variation in Human Genome. Russ J Genet. 2022; 58(10): 1180–1192.
2. Guo J., Zou Z., Dou X., et al. Zebrafish Mbd5 binds to RNA m5C and regulates histone deubiquitylation and gene expression in development metabolism and behavior. NucleicAcidsRes. 2024; 52(8): 4257-4275.
Review
For citations:
Fedotov D.A., Kashevarova A.A., Skryabin N.A., Lopatkina M.E., Vasilyeva O.Yu., Tolmacheva E.N., Lobanov A.D., Belyaeva E.O., Minaycheva L.I., Petrova V.V., Ravzhaeva E.G., Salyukova O.A., Sivoha V.M., Fadyushina S.V., Seitova G.N., Nazarenko L.P., Lebedev I.N. CNV load in families with a child with a neurodevelopmental disorder and a history of miscarriage. Medical Genetics. 2025;24(11):123-125. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.123-125
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