However, the methylation profile did not match the expected broad BAFopathy episignature (Figure 3A), but instead showed a sub-episignature specifically associated with the ARID1A/B:c.6200 region identified in cases with missense variants in ARID1A (E2078K, L2085R) or ARID1B (C2045R) (Figure 3B).10 The gene discussed is ARID1A; the disease is BAFopathy.