Figure 6. Summaries of the damaging, potentially disease-associated mutations identified in this study and those reported previously.

(A) Summary of SMC1A mutations reported in patients with CdLS (in black) and mutations reported in this study (in red). The domains of SMC1A are illustrated and annotated in the diagram. (B) Summary of KMT2A mutations reported in patients with WDSTS (in black) and the mutation reported in this study (in red). The domains of KMT2A are illustrated, with each annotated underneath the diagram.