{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:46:13Z","timestamp":1760060773580,"version":"build-2065373602"},"reference-count":35,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T00:00:00Z","timestamp":1758240000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation for Research Centre for Medical Genetics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The disruption of the epigenetic mechanisms of gene expression regulation due to the emergence of pathogenic variants in genes-encoding elements of epigenetic machinery leads to the development of chromatinopathies. This group of hereditary diseases includes 179 syndromes, some of which present with overlapping phenotypes. Despite the variety of approaches to molecular diagnostics of chromatinopathies, it is not always possible to establish the molecular diagnosis by traditional methods; thus, the issue of optimizing diagnostic algorithms remains relevant. One of the most rapidly expanding areas of post-genomic molecular diagnostics is episignature detection, which relies on genome-wide DNA methylation analysis. This article aims to represent an original approach to indirect diagnostics of chromatinopathies on the example of Rubinstein\u2013Taybi syndrome 1, which is based on the analysis of the methylation level of a limited set of loci designed to reproduce its classic episignature. In the current study, we apply two methods of targeted quantitative analysis of DNA methylation, which are relatively accessible and can be integrated into diagnostic practice. We demonstrate that Rubinstein\u2013Taybi syndrome 1 episignature may be successfully reduced to a single locus of human genome, and that quantitative bisulfite DNA methylation analysis at this locus allows accurate identification of the Rubinstein\u2013Taybi syndrome 1 patients.<\/jats:p>","DOI":"10.3390\/ijms26189183","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T13:04:44Z","timestamp":1758546284000},"page":"9183","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein\u2013Taybi Syndrome"],"prefix":"10.3390","volume":"26","author":[{"given":"Olga A.","family":"Zemlianaia","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9215-4581","authenticated-orcid":false,"given":"Alexey I.","family":"Kalinkin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2177-6743","authenticated-orcid":false,"given":"Alexander S.","family":"Tanas","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1360-7042","authenticated-orcid":false,"given":"Anna V.","family":"Efremova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6539-3763","authenticated-orcid":false,"given":"Ilya V.","family":"Volodin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0640-9758","authenticated-orcid":false,"given":"Olga R.","family":"Ismagilova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7510-1602","authenticated-orcid":false,"given":"Anton S.","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"},{"name":"Department of Bioinformatics, Biomedicine Institute, Pirogov Russian National Research Medical University, 117513 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9323-2673","authenticated-orcid":false,"given":"Dmitry V.","family":"Zaletaev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina V.","family":"Nemtsova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"},{"name":"Department of Translational Medicine and Biotechnology, Sechenov University, 119991 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey I.","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9283-902X","authenticated-orcid":false,"given":"Vladimir V.","family":"Strelnikov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00439-023-02560-2","article-title":"The Omics Era: A Nexus of Untapped Potential for Mendelian Chromatinopathies","volume":"143","author":"Nava","year":"2024","journal-title":"Hum. 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