Figure 5.

Mutations in Epigenetic Regulation Genes in OGID and Cancers

Protein schematics showing the position of mutations in HIST1H1E, EZH2, DNMT3A, NSD1, and CHD8 in OGID (below the gene) and specific cancers (above the gene). The somatic cancer driver mutations are from Lawrence et al.²⁶ Abbreviations are as follows: AML, acute myeloid leukemia; CLL, chronic lymphocytic leukemia; DLBCL, diffuse large B-cell lymphoma; GBM, glioblastoma multiforme; HNSC, head and neck squamous cell carcinoma; OGID, overgrowth-intellectual disability.