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. 2023 May 11;32(22):3123–3134. doi: 10.1093/hmg/ddad079

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© The Author(s) 2023. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Methylation episignatures for SETD2-1740 samples. The SETD2-1740 samples (n = 6) are revealed to have extensive methylation alterations with 7566 significant DMPs (789 hypomethylated and 6777 hypermethylated) containing 281 CpG Islands and 62 DMBs. (A) Hierarchical clustering dendrogram revealed that the majority of significant DMPs in SETD2-1740 cases exhibited very clear hypermethylation patterns compared with controls. A noteworthy observation is that 4 SETD2-1740 patients with Type 1 (R1740W) are distinguishable from Type 2 cases (R1740Q) and healthy controls. (B) Of the 7566 DMPs, 94.96% of DMPs are located on CpG islands, followed by Open Sea (4.85%), Shore (0.13%), and Shelf (0.05%). (C) Gain or loss of methylated DMPs were determined by the normalized methylation values. The horizontal line (red) indicates a confidence interval of 3 standard deviations (3SD). As a result, all four Type 1 (R1740W) cases showed a more severe hypermethylation pattern than in the two Type 2 (R1740Q) cases. ^*DMB: Differentially methylated blocks ^*GOM: Gain of methylation ^*LOM: Loss of methylation.