Article
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.
Nature communications - 27 Jul 2021
Smith Amanda M, LaValle Taylor A, Shinawi Marwan, Ramakrishnan Sai M, Abel Haley J, Hill Cheryl A, Kirkland Nicole M, Rettig Michael P, Helton Nichole M, Heath Sharon E, Ferraro Francesca, Chen David Y, Adak Sangeeta, Semenkovich Clay F, Christian Diana L, Martin Jenna R, Gabel Harrison W, Miller Christopher A, Ley Timothy J
Abstract excerpt
Germline pathogenic variants in DNMT3A were recently described in patients with overgrowth, obesity, behavioral, and learning difficulties (DNMT3A Overgrowth Syndrome/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...
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