Ten patients from seven different OI families were analyzed by a targeted NGS panel for the common OI-related genes including COL1A1, COL1A2, FKBP10, IFITM5, PPIB, SERPINF1, WNT1, BMP1, CRTAP, P3H1, and SERPINH1. Among the 10 OI-positive patients, 7/10 PVs were found in the COL1A1 whereas 3/10 were in the COL1A2 gene. The gene discussed is BMP1; the disease is osteogenesis imperfecta.