Moreover, the etiopathogenesis of OI is related to the presence of mutations in various gene, such as CRTAP, LEPRE1 or PPIB. However, the most common gene mutations are COL1A1 (17q21.31–22.05) and COL1A2 (7q21.3–22.1), which account for more than 90% of cases (Galicka, 2012). The gene discussed is COL1A1; the disease is osteogenesis imperfecta.