Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability
- Authors: Lopatkina M.E.1, Kashevarova A.A.1,2, Lebedev I.N.1,2
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Affiliations:
- Research Institute of Medical Genetics
- Department of Cytology and Genetics
- Issue: Vol 52, No 9 (2016)
- Pages: 1004-1006
- Section: Short Communications
- URL: https://journals.rcsi.science/1022-7954/article/view/187906
- DOI: https://doi.org/10.1134/S102279541609009X
- ID: 187906
Cite item
Abstract
Analysis of the prevalence of copy number variations of the CNTN6 gene, recently selected as a new candidate gene for intellectual disorders, was performed. Real-time PCR did not detect any change in the number of CNTN6 gene copies in a group of 200 patients with impaired intellectual development. However, taking into account our data from the previous aCGH analysis and published data, the overall frequency of microdeletions and microduplications of CNTN6 was estimated as 1: 265 (0.4%). The common phenotypic features of 40 patients with microdeletions and microduplications of CNTN6 appeared to be the autism spectrum disorders, developmental delay, intellectual disability, seizures, cognitive impairment, cardiological defects, and behavioral problems.
About the authors
M. E. Lopatkina
Research Institute of Medical Genetics
Author for correspondence.
Email: maria.lopatkina@medgenetics.ru
Russian Federation, Tomsk, 634050
A. A. Kashevarova
Research Institute of Medical Genetics; Department of Cytology and Genetics
Email: maria.lopatkina@medgenetics.ru
Russian Federation, Tomsk, 634050; Biological Institute, Tomsk, 634050
I. N. Lebedev
Research Institute of Medical Genetics; Department of Cytology and Genetics
Email: maria.lopatkina@medgenetics.ru
Russian Federation, Tomsk, 634050; Biological Institute, Tomsk, 634050