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Combined cytogenomic and exome screening of patients with intellectual disabilities
https://doi.org/10.25557/2073-7998.2025.10.133-134
Abstract
The combined search for genetic causes of intellectual disability in patients with impaired psychomotor development was performed. Comparative genomic hybridization (aCGH) was performed for 1,427 patients, of whom 766 had a balanced karyotype. Whole-exome trio sequencing was performed for 23 families in whom no causative copy number variants (CNVs) were identified. For eight families, variants in the genes ARID1B, CDKL5, DYNC1H1, PMM2, MACF1, MID1, and ZNF292 were identified as a probable cause of intellectual disability.
Keywords
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
E. A. Fonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences ; Siberian State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
2, Moskovsky trakt, Tomsk, 634050
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. S. Zuev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
I. Zh. Zhalsanova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
M. E. Lopatkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
D. A. Fedotov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
O. Yu. Vasilieva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
O. A. Salyukova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences ; Siberian State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
2, Moskovsky trakt, Tomsk, 634050
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
V. V. Petrova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
E. G. Ravzhaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
V. M. Sivoha
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
S. V. Fadyushina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences ; Siberian State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
2, Moskovsky trakt, Tomsk, 634050
References
1. Kashevarova A.A., Lopatkina M.E., Vasilyeva O.Yu., et al. Algorithm for molecular diagnosis of hereditary pathology associated with singlegene CNVs. Meditsinskaya genetika [Medical Genetics]. 2022; 21(11): 36-39. (In Russ.)
2. Belyaeva E.O., Minaycheva L.I., Sivokha V.M. et al. A novel missense heterozygous MACF1 variant in a patient with global developmental delay, lissencephaly and drug-resistant epilepsy. Discov Med. 2025; 2: 43.
3. Zuev A.S., Fonova E.A., Demeneva V.V., et al. A variant of p. Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders. Zh Nevrol Psikhiatr Im S.S.Korsakova [S.S. Korsakov Journal of Neurology and Psychiatry]. 2025; 125(2): 137-142. (In Russ.)
Review
For citations:
Fonova E.A., Kashevarova A.A., Zuev A.S., Zhalsanova I.Zh., Zarubin A.A., Skryabin N.A., Lopatkina M.E., Fedotov D.A., Vasilieva O.Yu., Minaycheva L.I., Salyukova O.A., Belyaeva E.O., Petrova V.V., Ravzhaeva E.G., Sivoha V.M., Fadyushina S.V., Seitova G.N., Lebedev I.N. Combined cytogenomic and exome screening of patients with intellectual disabilities. Medical Genetics. 2025;24(10):133-134. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.133-134
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