The GATA1 gene encodes a zinc finger transcription factor that is essential for normal erythroid and megakaryocytic differentiation.[13], [26]–[29] Acquired somatic mutations in exon 2 of GATA1 gene have been consistently detected in nearly all DS TMD and AMkL cases, whereas none were detected in non-DS AML and non-AMkL DS leukemia except for rare cases,[10]–[12], [30]–[32] highlighting their critical roles in leukemogenesis in DS. The gene discussed is GATA1; the disease is leukemia.