COL1A1 and osteogenesis imperfecta: Pathogenic mutations in OI have been uncovered in the following genes: COL1A1, COL1A2, SERPINF1, CRTAP, LEPRE1, PPIB, SERPINHI, or FKBP10. The majority of cases are due to an autosomal dominant mutation in COL1A1 and COL1A2 resulting in types I–IV, classified based on severity (Yap and Savarirayan, 2016).