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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

Authors

  • José A. Caparrós-Martin,

    1. Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
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  • María Valencia,

    1. Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain
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  • Veronica Pulido,

    1. Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain
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  • Victor Martínez-Glez,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    2. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain
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  • Inmaculada Rueda-Arenas,

    1. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain
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  • Khalda Amr,

    1. Human Genetics and Genome Research Division, National Research Centre, El-Dokki, Cairo, Egypt
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  • Chantal Farra,

    1. Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
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  • Pablo Lapunzina,

    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    2. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain
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  • Victor L. Ruiz-Perez,

    Corresponding author
    1. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    • Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain
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  • Samia Temtamy,

    Corresponding author
    • Human Genetics and Genome Research Division, National Research Centre, El-Dokki, Cairo, Egypt
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  • Mona Aglan

    Corresponding author
    • Human Genetics and Genome Research Division, National Research Centre, El-Dokki, Cairo, Egypt
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  • Conflict of interest: none.

Correspondence to:

Samia Temtamy, Mona Aglan, Human Genetics and Genome Research Division, National Research Centre, El-BohousStreet, El-Dokki, Cairo 12311, Egypt. Victor L. Ruiz-Perez. Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, 28029 Madrid, Spain.

E-mail: drmona_aglan@yahoo.com, samiatemtamy@yahoo.com, vlruiz@iib.uam.es

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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