Паттерн метилирования ДНК в участках генома с наследуемыми CNV

The role of CNV in pathogenesis of intellectual disability and autism is significant. Nevertheless, in the analysis of CNV-associated diseases, the interpretation of pathogenically significant CNV remains a debatable issue, while the mechanisms of the phenotypic manifestation of inherited CNVs and their incomplete penetrance remain largely unclear. At present, the incomplete penetrance of CNV is explained mainly from the point of view of allelic interactions of various genetic variants. At the same time, the epigenetic mechanisms of gene expression regulation in the context of structural genome variations remain practically unexplored. The purpose of this study was to search for differentially methylated CpG sites located in regions with inherited CNV in families with mental retardation and autism. As a result, differential methylation of intragenic CpG sites of the IMMP2L gene in the family of a patient with intellectual disability and 7q31.1 microdeletion was identified. The data obtained indicate the possibility of the involvement of DNA methylation in the regulatory mechanisms of incomplete penetration of CNV-associated diseases.