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    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

    Access Status
    Fulltext not available
    Authors
    Caparrós-Martín, Jose
    Valencia, M.
    Pulido, V.
    Martínez-Glez, V.
    Rueda-Arenas, I.
    Amr, K.
    Farra, C.
    Lapunzina, P.
    Ruiz-Perez, V.
    Temtamy, S.
    Aglan, M.
    Date
    2013
    Type
    Journal Article
    
    Metadata
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    Citation
    Caparrós-Martín, J. and Valencia, M. and Pulido, V. and Martínez-Glez, V. and Rueda-Arenas, I. and Amr, K. and Farra, C. et al. 2013. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. American Journal of Medical Genetics. Part A. 161 (6): pp. 1354-1369.
    Source Title
    American Journal of Medical Genetics. Part A
    DOI
    10.1002/ajmg.a.35938
    ISSN
    1552-4825
    School
    School of Pharmacy and Biomedical Sciences
    URI
    http://hdl.handle.net/20.500.11937/67978
    Collection
    • Curtin Research Publications
    Abstract

    Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR-OI, one of whom was presented with the additional features of Bruck syndrome (BS). Pathogenic changes were identified in five different genes: three families had mutations in FKBP10, three in SERPINF1, two in LEPRE1, one in CRTAP, and one in PPIB. With the exception of a FKBP10 mutation in the BS case, all changes are novel. Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of SERPINF1. Since the studied patients had variable manifestations and some distinctive features, genotype/phenotype correlations are suggested. © 2013 Wiley Periodicals, Inc.

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