A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

► New FKBP10 mutation has been found. ► FKB10 mutation could cause OI with a mineralization defect. ► OI phenotype due to FKBP10 mutations is various but it seems to be progressive and the prognosis improves with biphosphonate treatment. ► Genetic heterogeneity has been confirmed in osteogenesis imperfecta.