CCDC134 and osteogenesis imperfecta: With advances in molecular investigations, a total of 24 genes have been identified as the pathogenic genes of OI, including COL1A1, COL1A2, CRTAP, FKBP10, PLOD2, P3H1, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, TMEM38B, IFITM5, PLS3, CREB3L1, SEC24D, SPARC, P4HB, MBTPS2, KDELR2, FAM46A, MESD and CCDC134 [1].