Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Authors

  • Ranad Shaheen,

    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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  • Mohammed Al-Owain,

    1. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
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  • Eissa Faqeih,

    1. Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia
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  • Nadia Al-Hashmi,

    1. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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  • Ali Awaji,

    1. Department of Pediatrics, King Fahad General Hospital, Jizan, Saudi Arabia
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  • Zayed Al-Zayed,

    1. Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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  • Fowzan S Alkuraya

    Corresponding author
    1. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    2. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
    3. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia
    • Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, PO Box 3354, Riyadh 11211, Saudi Arabia.
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  • How to Cite this Article: Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya F S. 2011. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet Part A 155:1448–1452.

  • Authors declare no conflict of interest.

Abstract

Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family. More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations. © 2011 Wiley-Liss, Inc.

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