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Background  Mutations in the  FKBP10  gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found  FKBP10  mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. This raised the question if the patients in the first report indeed had isolated Osteogenesis imperfecta or if Bruck syndrome would have been the better diagnosis.    Methods  The patients described here are affected by severe autosomal recessive Osteogenesis imperfecta without contractures.    Results  Homozygosity mapping identified  FKBP10  as a candidate gene, and sequencing revealed a base pair exchange that causes a C-terminal premature stop codon in this gene.    Conclusions  Our study demonstrates that  FKBP10  mutations not only cause Bruck syndrome or Osteogenesis imperfecta type III but can result in a severe type of isolated Osteogenesis imperfecta type IV with prenatal onset. Furthermore, it adds dentinogenesis imperfecta to the spectrum of clinical symptoms associated with  FKBP10  mutations.

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta