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    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    Access Status
    Fulltext not available
    Authors
    Valencia, M.
    Caparrós-Martín, Jose
    Sirerol-Piquer, M.
    García-Verdugo, J.
    Martínez-Glez, V.
    Lapunzina, P.
    Temtamy, S.
    Aglan, M.
    Lund, A.
    Nikkels, P.
    Ruiz-Perez, V.
    Ostergaard, E.
    Date
    2014
    Type
    Journal Article
    
    Metadata
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    Citation
    Valencia, M. and Caparrós-Martín, J. and Sirerol-Piquer, M. and García-Verdugo, J. and Martínez-Glez, V. and Lapunzina, P. and Temtamy, S. et al. 2014. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. American Journal of Medical Genetics. Part A. 164 (5): pp. 1143-1150.
    Source Title
    American Journal of Medical Genetics. Part A
    DOI
    10.1002/ajmg.a.36427
    ISSN
    1552-4825
    School
    School of Pharmacy and Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/68226
    Collection
    • Curtin Research Publications
    Abstract

    Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. Mutations in the gene encoding bone morphogenetic protein 1 (BMP1, also known as procollagen C-endopeptidase) have been associated with osteogenesis imperfecta in two sib pairs. In this report, we describe an additional patient with osteogenesis imperfecta with normal bone density and a recurrent, homozygous c.34G > C mutation in BMP1. Western blot analysis of dermal fibroblasts from this patient showed decreased protein levels of the two alternatively spliced products of BMP1 and abnormal cleavage of the C-terminal propeptide of type I procollagen. In addition, fluorescence and electron microscopy showed impaired assembly of type I collagen fibrils in the extracellular matrix of cultured fibroblasts derived from two patients: the patient described here and a previously reported patient with a homozygous BMP1 c.747C > G mutation. We conclude that BMP1 is essential for human type I collagen fibrilogenesis. © 2014 Wiley Periodicals, Inc.

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