Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability

详细信息    查看全文

• 作者：M. E. Lopatkina ; A. A. Kashevarova ; I. N. Lebedev
• 关键词：idiopathic intellectual disability ; CNV ; microdeletion/microduplication syndromes ; CNTN6 ; real ; time PCR ; genotype–phenotype correlations
• 刊名：Russian Journal of Genetics
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：52
• 期：9
• 页码：1004-1006
• 全文大小：92 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Animal Genetics and Genomics
  Microbial Genetics and Genomics
  Russian Library of Science
  
• 出版者：MAIK Nauka/Interperiodica distributed exclusively by Springer Science+Business Media LLC.
• ISSN：1608-3369
• 卷排序：52

文摘

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.