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

• Published in: Russian journal of genetics Vol. 52; no. 9; pp. 1004 - 1006
• Main Authors: Lopatkina, M. E., Kashevarova, A. A., Lebedev, I. N.
• Format: Journal Article
• Language: English
• Published: Moscow Pleiades Publishing 01-09-2016
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Microbial Genetics and Genomics; Short Communications; CNV; microdeletion/microduplication syndromes; real-time PCR; idiopathic intellectual disability; genotype–phenotype correlations
• ISSN: 1022-7954; 1608-3369
• DOI: 10.1134/S102279541609009X

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.