A total of 11 variants had arisen de novo (3 cases with missense variant in FGFR3, 2 cases with missense variant in COL1A1, 4 cases with frameshift variant in SALL4, KAT6B, ARIDA1 and COL1A1, 1 case with nonsense variant in NOTCH2, 1 case with missense variant in GNAI3), all of them were associated with AD conditions. The gene discussed is KAT6B; the disease is Alzheimer disease.