Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability
- 作者: Lopatkina M.1, Kashevarova A.1,2, Lebedev I.1,2
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隶属关系:
- Research Institute of Medical Genetics
- Department of Cytology and Genetics
- 期: 卷 52, 编号 9 (2016)
- 页面: 1004-1006
- 栏目: Short Communications
- URL: https://journals.rcsi.science/1022-7954/article/view/187906
- DOI: https://doi.org/10.1134/S102279541609009X
- ID: 187906
如何引用文章
详细
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.
作者简介
M. Lopatkina
Research Institute of Medical Genetics
编辑信件的主要联系方式.
Email: maria.lopatkina@medgenetics.ru
俄罗斯联邦, Tomsk, 634050
A. Kashevarova
Research Institute of Medical Genetics; Department of Cytology and Genetics
Email: maria.lopatkina@medgenetics.ru
俄罗斯联邦, Tomsk, 634050; Biological Institute, Tomsk, 634050
I. Lebedev
Research Institute of Medical Genetics; Department of Cytology and Genetics
Email: maria.lopatkina@medgenetics.ru
俄罗斯联邦, Tomsk, 634050; Biological Institute, Tomsk, 634050