medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.12.22-29medgen-2583Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHИспользование эписигнатуры для диагностики синдрома СотосаUsing episignature to diagnose Sotos syndromeЕфремоваА. В.EfremovaA. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

anv.efremova@gmail.comЗемлянаяО. А.ZemlianaiaO. A.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

КалинкинА. И.KalinkinA. I.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

ЗалетаевД. В.ZaletaevD. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

ТанасА. С.TanasA. S.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

СтрельниковВ. В.StrelnikovV. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

ВолодинИ. В.VolodinI. V.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

ФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation20242501202523122229Copyright © Ефремова А.В., Земляная О.А., Калинкин А.И., Залетаев Д.В., Танас А.С., Стрельников В.В., Володин И.В., 20252025Ефремова А.В., Земляная О.А., Калинкин А.И., Залетаев Д.В., Танас А.С., Стрельников В.В., Володин И.В.Efremova A.V., Zemlianaia O.A., Kalinkin A.I., Zaletaev D.V., Tanas A.S., Strelnikov V.V., Volodin I.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2583

Мутационные события в генах эпигенетического аппарата влекут за собой изменения в метилировании ДНК. Уникальные паттерны метилирования ДНК (эписигнатуры) являются высокоспецифичными биомаркерами заболеваний и могут использоваться для косвенной диагностики хроматинопатий и для интерпретации вариантов в эпигенах. В этой работе мы провели поиск наиболее значимых CpG-динуклеотидов из широкогеномной эписигнатуры синдрома Сотоса и разработали классифицирующую модель для косвенной диагностики синдрома Сотоса на основании выявленной эписигнатуры. Данная модель применима в качестве теста второй линии при клинической картине синдрома Сотоса и отсутствии молекулярно-генетического диагноза. Наличие эписигнатуры синдрома Сотоса устанавливает диагноз, но заставляет искать другие варианты ДНК в гене NSD1, которые могут приводить к патологии.

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.

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The authors declare that there are no conflicts of interest present.