Estimation of the Prevalence and Parental Origin of Chromosomal Microdeletions and Microduplications Affecting the CNTN6 Gene in Patients with Neurodevelopmental Disorders and Healthy Individuals

• Published in: Russian journal of genetics 2021-08, Vol.57 (8), p.972-977
• Main Authors: Lopatkina, M. E., Ivanova, S. A., Lebedev, I. N.
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Microbial Genetics and Genomics; Short Communications
• ISSN: 1022-7954; 1608-3369
• DOI: 10.1134/S1022795421070103

An analysis of the prevalence of the CNTN6 gene microdeletions and microduplications in patients with neurodevelopmental disorders and healthy individuals was performed. Array comparative genomic hybridization and real-time PCR were used for screening of the CNTN6 gene copy number variations among 1070 patients with intellectual disability, 86 schizophrenia patients, and 200 healthy individuals. According to our current results and published data, the overall frequency of microdeletions and microduplications of the CNTN6 gene was estimated as 1 : 711 (0.14%) in patients with neurodevelopmental disorders and 1 : 917 (0.11%) in healthy individuals. CNTN6 microduplication in a control group was statistically significant in comparison with patient’s group ( p = 0.0372). For 43 out of 100 CNTN6 chromosomal mutations described in the literature, the inheritance from one of the parents was shown. In 12 cases out of 18 (67%), CNTN6 gene microdeletions and microduplications were inherited from a apparently healthy parent without phenotypic manifestations of the chromosomal mutation.