Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

  title={Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V},
  author={Z. Zhang and M. Li and J. He and Wen-zhen Fu and C. Zhang},
  journal={PLoS ONE},
  • Z. Zhang, M. Li, +3 authors Z. Zhang
  • Published 2013
  • Medicine, Biology
  • PLoS ONE
  • Osteogenesis imperfecta (OI) type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. The causative mutation, c.-14C>T in the 5'-untranslated region of IFITM5, was recently discovered to be involved in this disease. However, in spite of the little genotypic variability, considerable phenotypic variability has been recognized in two cohorts of… CONTINUE READING

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    Publications referenced by this paper.
    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
    • 51
    • Highly Influential
    • Open Access
    Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients
    • 69
    • Highly Influential
    • Open Access
    Genetic heterogeneity in osteogenesis imperfecta.
    • 1,645
    • Open Access
    Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease
    • 390
    Recent Advances in Osteogenesis Imperfecta
    • 85
    A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
    • 161
    • Open Access
    Mutations in WNT1 cause different forms of bone fragility.
    • 164
    • Open Access
    PPIB mutations cause severe osteogenesis imperfecta.
    • 233
    • Open Access