ASXL1 and Bohring-Opitz syndrome: Bohring-Opitz syndrome (BOS, OMIM#605309) [1] and acute myeloid leukemia (AML) are two diseases with distinct clinical presentations; BOS is a pediatric, neurodevelopmental disorder caused by germline variants in the additional sex combs-like 1 (ASXL1) gene [2, 3] while AML is a hematologic malignancy derived from myeloid progenitor and hematopoietic stem cells (HSCs) in the bone marrow in which somatic ASXL1 variants are a common driver variant.