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X-Linked CNV in Pathogenetics of Intellectual Disability

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Abstract

The review considers monogenic and chromosomal mutations associated with X-linked intellectual disability. Peculiarities of the development of the clinical phenotype in cases of different mutations were described. Special attention is paid to X-linked CNVs (microdeletions and microduplications). Chromosomal microaberrations most frequently found in patients with intellectual disability are presented. A modifying effect of X chromosome inactivation on the phenotype of carriers of X-linked mutations is discussed. The problems of interpretation of the clinical significance of X-linked CNVs are considered.

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Funding

This study was supported by the Russian Science Foundation (project no. 21-65-00017, https://rscf.ru/project/21-65-00017/).

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Authors and Affiliations

  1. Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050, Tomsk, Russia

    E. N. Tolmacheva, E. A. Fonova & I. N. Lebedev

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  1. E. N. Tolmacheva
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  2. E. A. Fonova
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  3. I. N. Lebedev
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Correspondence to E. N. Tolmacheva.

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The authors declare that they have no conflicts of interest. This article does not contain any studies involving animals or human participants as an object.

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Translated by A. Barkhash

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Tolmacheva, E.N., Fonova, E.A. & Lebedev, I.N. X-Linked CNV in Pathogenetics of Intellectual Disability. Russ J Genet 58, 1193–1207 (2022). https://doi.org/10.1134/S102279542210009X

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  • DOI: https://doi.org/10.1134/S102279542210009X

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