The mutated genes identified in OI patients included COL1A1 (n=126, 56.0%), COL1A2 (n=66, 29.3%), IFITM5 (n=8, 3.6%), FKBP10 (n=5, 2.2%), WNT1 (n=5, 2.2%), PLS3 (n=3, 1.3%), TMEM38B (n=2, 0.9%), PLOD2 (n=2, 0.9%), SERPINF1 (n=2, 0.9%), BMP1 (n=2, 0.9%), SERPINH1 (n=1, 0.4%), CRTAP (n=1, 0.4%), and P3H1 (n=1, 0.4%). The gene discussed is P3H1; the disease is osteogenesis imperfecta.