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Using episignature to diagnose Sotos syndrome
https://doi.org/10.25557/2073-7998.2024.12.22-29
Abstract
Mutational events in the genes of the epigenetic apparatus lead to changes in DNA methylation. Unique DNA methylation patterns (episignatures) are highly specific biomarkers of diseases and can be used for indirect diagnosis of chromatinopathies and for interpretation of variants in epigenes. In this work, we searched for the most significant CpG dinucleotides from the genome-wide episignature of Sotos syndrome and developed a classification model for indirect diagnosis of Sotos syndrome based on the identified episignature. This model is applicable as a second-line test (in the clinical picture of Sotos syndrome and the absence of a molecular genetic diagnosis). The presence of the episignature of Sotos syndrome establishes the diagnosis and prompts the search for the causative variant in the NSD1 gene.
Supporting agencies: The study was carried out according to the state assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre for Medical Genetics.
About the Authors
A. V. Efremova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
O. A. Zemlianaia
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
A. I. Kalinkin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
D. V. Zaletaev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
A. S. Tanas
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
V. V. Strelnikov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
I. V. Volodin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
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For citations:
Efremova A.V., Zemlianaia O.A., Kalinkin A.I., Zaletaev D.V., Tanas A.S., Strelnikov V.V., Volodin I.V. Using episignature to diagnose Sotos syndrome. Medical Genetics. 2024;23(12):22-29. (In Russ.) https://doi.org/10.25557/2073-7998.2024.12.22-29
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