Mutations in FKBP10 have been found in several family members with osteogenesis imperfecta and clinical consequences of these mutations, one of which is the frameshift mutation identified in our study (rs137853883), included loss of FKBP65 protein function leading to delayed type I procollagen secretion and improper crosslinking of collagen [27, 28]. Here, COL1A2 is linked to osteogenesis imperfecta.