A total of 7/47 probands suspected with OI carried variants in 6 disease-causing genes, namely, 1 IFITM5, 1 CRTAP, 2 BMP1, 1 PLS3, and 1 COL1A2 (c.432 + 4_432 + 7delAGTA was ignored previously), and 1 case of Camurati-Engelmann disease with pathogenic variants in TGFβ-1, which was misdiagnosed. The gene discussed is COL1A2; the disease is osteogenesis imperfecta.