Figure 3.

p53 hyperactivity is associated with multiple syndromes. Syndromes associated with p53 hyperactivity identified using mouse models and human patient samples. The phenotypes observed in human patients and the most commonly mutated genes associated with each syndrome are noted. The genotypes of the mouse models are noted. Our work identifies p53 hyperactivity in CHARGE syndrome using 3 independent criteria: p53 mutation being sufficient to cause phenotypes of the syndrome in a mouse model, p53 accumulation and/or activation in CHARGE patient samples, and p53-deficiency being able to rescue phenotypes in Chd7-deficient mice.