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    Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

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    Fulltext not available
    Authors
    Puig-Hervás, M.
    Temtamy, S.
    Aglan, M.
    Valencia, M.
    Martínez-Glez, V.
    Ballesta-Martínez, M.
    López-González, V.
    Ashour, A.
    Amr, K.
    Pulido, V.
    Guillén-Navarro, E.
    Lapunzina, P.
    Caparrós-Martín, Jose
    Ruiz-Perez, V.
    Date
    2012
    Type
    Journal Article
    
    Metadata
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    Citation
    Puig-Hervás, M. and Temtamy, S. and Aglan, M. and Valencia, M. and Martínez-Glez, V. and Ballesta-Martínez, M. and López-González, V. et al. 2012. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum. Human Mutation. 33 (10): pp. 1444-1449.
    Source Title
    Human Mutation
    DOI
    10.1002/humu.22133
    ISSN
    1059-7794
    School
    School of Pharmacy and Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/68119
    Collection
    • Curtin Research Publications
    Abstract

    PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases. Two probands were found with a homozygous frameshift mutation in the alternative exon 13a of PLOD2, indicating that specific inactivation of the longer protein isoform encoded by this gene is sufficient to cause BS. In addition, by homozygosity mapping, followed by a candidate gene approach, we identified a homozygous donor splice site mutation in PLOD2 in a patient with autosomal-recessive OI (AR-OI). Screening of additional samples also revealed compound heterozygous mutations in PLOD2 in two brothers, one affected with mild AR-OI and the other with mild BS. Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. © 2012 Wiley Periodicals, Inc.

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