Osteogenesis imperfecta


Osteogenesis imperfecta is a heritable connective tissue disease arising from defects related to type I collagen, most often mutations in COL1A1 or COL1A2. The clinical presentation is characterized by skeletal fragility and primary osteoporosis.

Latest Research and Reviews

  • Reviews |

    Osteogenesis imperfecta — also known as brittle bone disease — is a heterogeneous group of inherited bone dysplasias characterized by skeletal deformity and bone fragility. In this Primer, Marini et al. provide an overview of the epidemiology, genetics, pathophysiology, diagnosis and management of osteogenesis imperfecta.

    • Joan C. Marini
    • , Antonella Forlino
    • , Hans Peter Bächinger
    • , Nick J. Bishop
    • , Peter H. Byers
    • , Anne De Paepe
    • , Francois Fassier
    • , Nadja Fratzl-Zelman
    • , Kenneth M. Kozloff
    • , Deborah Krakow
    • , Kathleen Montpetit
    •  & Oliver Semler
  • Reviews |

    This article discusses the many heritable and nonheritable factors contributing to primary osteoporosis, focusing on osteogenesis imperfecta, juvenile osteoporosis and other monogenic disorders associated with increased bone fragility. Understanding these conditions not only illuminates the pathogenesis of osteoporosis, but could also lead to the discovery of new therapeutic targets.

    • Gretl Hendrickx
    • , Eveline Boudin
    •  & Wim Van Hul
  • Research |

    Osteogenesis imperfecta (OI) is a debilitating illness marked by brittle bones and fractures, as well as extraskeletal abnormalities. Now, Ingo Grafe and colleagues show that both the dominant and recessive forms of this disease are caused by excessive TGF-β signaling and that targeting this pathway improves bone health in mouse models of OI.

    • Ingo Grafe
    • , Tao Yang
    • , Stefanie Alexander
    • , Erica P Homan
    • , Caressa Lietman
    • , Ming Ming Jiang
    • , Terry Bertin
    • , Elda Munivez
    • , Yuqing Chen
    • , Brian Dawson
    • , Yoshihiro Ishikawa
    • , Mary Ann Weis
    • , T Kuber Sampath
    • , Catherine Ambrose
    • , David Eyre
    • , Hans Peter Bächinger
    •  & Brendan Lee
    Nature Medicine 20, 670–675
  • Reviews |

    Osteogenesis imperfecta, or 'brittle bone disease', is a clinically heterogeneous heritable connective tissue disorder, the causative defects of which are directly related to type I collagen. Human cases and murine models of osteogenesis imperfecta are providing insight into common pathways in dominant and recessive osteogenesis imperfecta, leading to the re-evaluation of its definition, classification and therapeutic approaches.

    • Antonella Forlino
    • , Wayne A. Cabral
    • , Aileen M. Barnes
    •  & Joan C. Marini