In collaboration with Sharon Savage, we identified a family with a heterozygous germline missense mutation in MDM4. In this family, carriers of the MDM4T454M mutation exhibited considerable heterogeneity in their phenotypes, with features suggestive of DC, e.g., bone marrow hypocellularity, short telomeres, tongue squamous cell carcinoma, and acute myeloid leukemia [41]. Here, MDM4 is linked to tongue squamous cell carcinoma.