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Genome and chromosome instability in children with neurodevelopmental disorders
https://doi.org/10.25557/2073-7998.2025.09.150-152
Abstract
Regardless of communications about associations between genome/chromosome instability with neurodevelopmental disorders, the corresponding research has not been systematically carried out. Here, 300 blood samples of children with neurodevelopmental diseases (autism, intellectual disability, epilepsy) have been evaluated using cytogenetic analysis and SNP-array. Chromosome instability has been revealed in 25 cases (8.3%), genome insurability has been found in 56 cases (18.7%). Thus, 27% of children with neurodevelopmental diseases demonstrate genomic chaotization mediated by chromosome and genome instability.
Keywords
genome instability,
chromosome instability,
genomic instability,
cytogenetics,
cytogenomics,
central nervous system
Supporting agencies: The work was partially supported by the Government Assignment of the Russian Ministry of Health, (124020900027-3) and the Ministry of Science and Higher Education (124020700037-4).
About the Authors
I. Y. Iourov
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Russian Medical Academy of Continuous Postgraduate Education
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412; 2/1 bld. 1, Barrikadnaya st., Moscow, 125993
S. G. Vorsanova
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
O. S. Kurinnaia
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
I. A. Demidova
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
A. D. Kolotii
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
K. S. Vasin
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
M. E. Iuditskaia
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
E. S. Karpachev
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
A. F. Bobkov
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
N. S. Iakushev
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
J. A. Chaika
Mental Health Research Center
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522
Y. B. Yurov
Mental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
34, Kashirskoe shosse, Moscow, 115522; 2, Taldomskaya st., Moscow, 125412
References
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Review
For citations:
Iourov I.Y., Vorsanova S.G., Kurinnaia O.S., Demidova I.A., Kolotii A.D., Vasin K.S., Iuditskaia M.E., Karpachev E.S., Bobkov A.F., Iakushev N.S., Chaika J.A., Yurov Y.B. Genome and chromosome instability in children with neurodevelopmental disorders. Medical Genetics. 2025;24(9):150-152. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.150-152
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