Approximately 90% of osteogenesis imperfecta cases are due to causative variants in the COL1A1 and COL1A2 genes, which result in abnormal collagen I fibrils formation, while the remaining 10% of cases are associated with recessive variants of known or yet to be discovered genes [24, 25]. Here, COL1A2 is linked to osteogenesis imperfecta.