MBTPS2 and osteogenesis imperfecta: We extracted all experimentally confirmed OI-related pathogenic genes from the OIVD, and those pathogenic genes are COL1A1, COL1A2, BMP1, CRTAP, P3H1, PPIB, TMEM38B, SERPINH1, FKBP10, PLOD2, IFITM5, SERPINF1, WNT1, CREB3L1, SP7, SPARC, MBTPS2, P4HB, PLS3, and SEC24D. As less reported cases available for other 18 pathogenic non-collagen genes, we just collected cases with the variations reported in collagen gene COL1A1 and COL1A2 from literature.