Since early 1980s, OI has been known as an autosomal dominant disease caused by mutations in COL1A1 and COL1A2, which encodes the α1 and α2 chains of type I collagen, the most abundant extracellular matrix in bone, tendon and skin (Forlino et al., 2011). This evidence concerns the gene COL1A1 and osteogenesis imperfecta.