Although the supportive evidence presented in this study is overwhelmingly genetic in nature, we also share experimental evidence in support of the pathogenesis of the missense variant identified in DUT. Since the case reported by Dos Santos et al. (2017), no follow up studies have been published on the involvement of DUT in the pathogenesis of the syndrome of diabetes with bone marrow failure. The gene discussed is DUT; the disease is Bone marrow hypocellularity.