Diagnosis of X-linked CNV in families with intellectual disorders
https://doi.org/10.25557/2073-7998.2022.11.48-51
Abstract
Molecular karyotyping of 1176 patients with neuropsychiatric development delay was performed and 53 patients with X-linked CNVs were identified. Based on the results, a diagnostic algorithm was developed and tested for patients carrying X-linked CNV. The algorithm involves the analysis of pathogenic significance of CNV using databases (DGV, OMIM and DECIPHER) and investigating the X-chromosome inactivation in CNV carriers. An integrated approach makes it possible to identify pathogenetically significant rearrangements on the X-chromosome in families and perform personalized genetic counseling for these families.
About the Authors
E. N. Tolmacheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
O. A. Salyukova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. A. Fonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
M. E. Lopatkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
D. A. Fedotov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
References
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2. Isrie M., Froyen G., Devriendt K. et al. Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. Eur J Med Genet. 2012; 55(11):577-585.
3. Tolmacheva E., Kashevarova A., Nazarenko L. et al. Delineation of clinical manifestations of the inherited Xq24 microdeletion segregating with sXCI in mothers: two novel cases with distinct phenotypes ranging from UBE2A deficiency syndrome to recurrent pregnancy loss. Cytogenet Genome Res. 2020; 160(5): 245-254.
Review
For citations:
Tolmacheva E.N., Kashevarova A.A., Belyaeva E.O., Salyukova O.A., Fonova E.A., Lopatkina M.E., Fedotov D.A., Lebedev I.N. Diagnosis of X-linked CNV in families with intellectual disorders. Medical Genetics. 2022;21(11):48-51. (In Russ.) https://doi.org/10.25557/2073-7998.2022.11.48-51
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