As compared to missense or splice-site mutations, multiexon duplication or deletion in COL1A2 has less been reported in classic OI cases but it may be linked to a wide array of clinical OI phenotypes or several subtypes of Ehlers-Danlos syndrome (EDS), depending on the location of variant (Kuivaniemi et al., 1988; Byers et al., 1997; Raff et al., 2000). Here, COL1A2 is linked to osteogenesis imperfecta.