Mutation in FKBP10 causes early onset of scoliosis

Scoliosis is a three-dimensional structural deformity of the spine, while the underlying pathogenesis is not fully uncovered. Osteogenesis imperfecta (OI), known as brittle bone disease, is a group of rare genetic disorder associated with osteopenia, deformity and scoliosis. Here we found the mutation in FKBP10 resulted in early onset of scoliosis via deleterious effects on collagen processing and osteoblast differentiation. Overall design: We sequenced 6 bulk RNAseq samples. Osteoblasts isolated from patients with osteogenesis imperfecta or polidactyly were collected for RNAseq.