In addition, two duplications [COL1A2: c.962_979dupCCCGGCCTCCCTGGACCC (p. Arg327Profs*1047) and COL1A2: c.2415_2423dupCCCTCCTGG (p. Pro810_Pro812dup)] and one deletion (COL1A2: c.2350-87_2350-124del) were identified in Families PUMC-OI-137, PUMC-OI-199, and PUMC-OI-147, respectively. Here, COL1A2 is linked to osteogenesis imperfecta.