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Germline pathogenic variants in  DNMT3A  were recently described in patients with overgrowth, obesity, behavioral, and learning difficulties (  D   NMT3A   O vergrowth  S yndrome/DOS). Somatic mutations in the  DNMT3A  gene are also the most common cause of clonal hematopoiesis, and can initiate acute myeloid leukemia (AML). Using whole genome bisulfite sequencing, we studied DNA methylation in peripheral blood cells of 11 DOS patients and found a focal, canonical hypomethylation phenotype, which is most severe with the dominant negative  DNMT3A  R882H  mutation. A germline mouse model expressing the homologous  Dnmt3a  R878H  mutation phenocopies most aspects of the human DOS syndrome, including the methylation phenotype and an increased incidence of spontaneous hematopoietic malignancies, suggesting that all aspects of this syndrome are caused by this mutation.

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome