Germ-line mutations in ASXL1 occur in Bohring-Opitz syndrome, while somatic mutations in ASXL1 occur in colorectal cancer with microsatellite instability, hematological malignancies and castration-resistant prostate cancer (Gelsi-Boyer et al., 2012; Katoh, 2013a and references therein). The gene discussed is ASXL1; the disease is hematologic disorder.