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. 2017 May 4;100(5):725–736. doi: 10.1016/j.ajhg.2017.03.010

Figure 3.

Figure 3

Schematic of Key Biological Processes Impacted in OGID

(A) Epigenetic regulation. NSD1, EED, and EZH2 directly methylate specific histone tail lysine residues. DNMT3A is a de novo DNA methyltransferase and CHD8 is a chromatin remodeling complex protein that binds methylated lysine 4 of histone H3. H1.4 (encoded by HIST1H1E) stabilizes higher-order chromatin structures.

(B) All OGID mutations are predicted to lead to reduced function PI3K/AKT pathway. The PI3K/AKT pathway positively regulates growth. AKT3, MTOR, and p110α (encoded by PIK3CA) are pathway activators. PTEN and B56δ (encoded by PPP2R5D) are pathway suppressors. OGID mutations in AKT3, MTOR, and PIK3CA are activating, whereas OGID mutations in PTEN and PPP2R5D are inactivating.