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. 2024 May 31;5:26330040241254123. doi: 10.1177/26330040241254123

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© The Author(s), 2024

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).

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Figure 1. — Genes underlying overgrowth are enriched for roles in epigenetic regulation and cell signaling. The genes representing select conditions encode either epigenetic or transcriptional regulators (9/13; green) or cell signaling/kinases (4/13; purple). The epigenetic regulators can be further divided into DNA methylation regulators (dark green; TET3 and DNMT3A), histone modifiers (medium green; NSD1, EZH2, EED, SUZ12, SETD2) and chromatin remodelers (CHD8) and transcription factors (NFIX; light green). The cell signaling proteins can be divided into cell surface receptors (GPC3 and PDGFRB; light purple) and mTOR pathway genes (mTOR and PIK3CA; medium purple). Note that EZH2, EED, and SUZ12 physically interact, which is reflected in the high degree of clinical overlap of their respective conditions.