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Familial case of intragenic microduplication of the MBD5 (2q23.1)
https://doi.org/10.25557/2073-7998.2024.12.67-71
Abstract
DNA copy number variations (CNVs) are responsible for intellectual disability, autism spectrum disorders, attention deficit hyperactivity disorder, and other nervous system diseases. The same pathogenic CNVs can be inherited from healthy parents and are also found in intrauterine deceased human embryos, raising the question of incomplete penetrance and pleiotropic properties of some variations. In this paper, we report a case of a monogenic microduplication in the 2q23.1 region containing the MBD5 gene inherited from a healthy father, and consider the possible association of this microstructural chromosomal abnormality not only with the birth of an affected child but also with pregnancy loss.
Supporting agencies: This study was supported by the Russian Science Foundation project 21-65-00017, https://rscf.ru/project/21-65-00017/
About the Authors
D. A. Fedotov
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
Dmitry A. Fedotov
10, Naberejnaya Ushaiki, Tomsk, 634050
A. A. Kashevarova
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
M. E. Lopatkina
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
E. A. Sazhenova
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
T. V. Nikitina
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
G. V. Drozdov
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
O. A. Salukova
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
E. G. Ravzhaeva
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
L. I. Minaycheva
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
G. N. Seitova
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
I. N. Lebedev
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
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Review
For citations:
Fedotov D.A., Kashevarova A.A., Lopatkina M.E., Sazhenova E.A., Nikitina T.V., Drozdov G.V., Salukova O.A., Ravzhaeva E.G., Minaycheva L.I., Seitova G.N., Lebedev I.N. Familial case of intragenic microduplication of the MBD5 (2q23.1). Medical Genetics. 2024;23(12):67-71. (In Russ.) https://doi.org/10.25557/2073-7998.2024.12.67-71
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