A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva (original) (raw)

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NOTE: In the version of this article initially published, several contributing authors were listed collectively under the name The International FOP Research Consortium. In order to facilitate the electronic citation of author contributions, the authors have chosen to delete the Consortium name and replace it with the names of the individual consortium authors in alphabetical order. This error has been corrected in the HTML and PDF versions of the article.

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Acknowledgements

We thank the individuals and families with FOP for providing tissue samples for these studies and for their courage and faith; J. Peeper and A. Cali for their inspiration and leadership of the international FOP community; many colleagues for discussions over the course of these investigations and many physicians worldwide who referred patients and helped in sending tissue samples. We acknowledge the contributions of R. Pignolo, University of Pennsylvania School of Medicine; M. Fardeau, Institut de Myologie, Hôpital de la Salpetriere; D. Baldwin, University of Pennsylvania Microarray Core Facility; G. Abecasis, University of Michigan, for linkage data analysis advice; C. Street, University of Pennsylvania Biomedical Informatics Facility; University of Pennsylvania School of Medicine DNA Sequencing Facility and the University of Utah School of Medicine Genomics Core Facility. We thank V. Cheung for discussion of the manuscript, M. Liljesthröm for her observations and the people of Santa Maria and many other communities around the globe for their faith and generosity over many years. We also thank the many present and past members of our laboratory for their dedication and technical support, particularly those who have participated in candidate gene screening, especially A. Strong, H. Yang and P. Chen. This work was supported by endowments from the Cali and Weldon families and their associates and friends, the Isaac and Rose Nassau Professorship of Orthopaedic Molecular Medicine, the Roemex and Grampian Fellowships, the Stephen Roach-Whitney Weldon Fellowship and grants from the International Fibrodysplasia Ossificans Progressiva Association (http://www.ifopa.org), Association Pierre-Yves, FOPe.v., University of Oxford FOP Research Fund, the Sarah Cameron Fund, and the US National Institutes of Health (NIH R01-AR41916).

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Authors and Affiliations

  1. Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    Eileen M Shore, Meiqi Xu, George J Feldman, David L Glaser, Michael Zasloff & Frederick S Kaplan
  2. Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    Eileen M Shore, Meiqi Xu, George J Feldman, David L Glaser, Michael Zasloff & Frederick S Kaplan
  3. Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    Eileen M Shore
  4. Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    David A Fenstermacher
  5. Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    David A Fenstermacher
  6. Biomedical Informatics Facility, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    David A Fenstermacher
  7. Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 28 Yeongeon-dong, Jongno-gu, Seoul, 110-744, Republic of Korea
    Tae-Joon Cho & In Ho Choi
  8. Division of Developmental Medicine, Institute of Medical Genetics, University of Glasgow Medical School, Yorkhill Academic Campus, Glasgow , G3 8SJ, Scotland, UK
    J Michael Connor
  9. Department of Orthopaedic Surgery, Santa Casa de Misericórdia de São Paulo School of Medicine, Rua Dr. Cesário Motta Jr. 112, Cep: 01221-020, São Paulo, Brazil
    Patricia Delai
  10. Department of Genetics, Hôpital Necker-Enfants Malades, INSERM U-781, 149 Rue de Sèvres, Paris, 75015, France
    Martine LeMerrer
  11. Department of Pediatrics, Klinikum Garmisch-Partenkirchen GmbH, Garmisch-Partenkirchen, D-82467, Germany
    Rolf Morhart
  12. Department of Genetics, Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia
    John G Rogers
  13. Nuffield Department of Orthopaedic Surgery, Nuffield Orthopaedic Centre, Windmill Road, Headington, Oxford, OX3 7LD, UK
    Roger Smith
  14. Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Oxford, OX3 7LD, UK
    James T Triffitt & Matthew A Brown
  15. Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Marin, Hendaye, 64700, France
    J Andoni Urtizberea
  16. Department of Surgery, Georgetown University School of Medicine, Washington, 20057, DC, USA
    Michael Zasloff
  17. Department of Pediatrics, Georgetown University School of Medicine, Washington, 20057, DC, USA
    Michael Zasloff
  18. Centre for Immunology and Cancer Research, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, 4102, Queensland, Australia
    Matthew A Brown
  19. Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
    Frederick S Kaplan

Authors

  1. Eileen M Shore
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  2. Meiqi Xu
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  3. George J Feldman
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  4. David A Fenstermacher
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  5. Tae-Joon Cho
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  6. In Ho Choi
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  7. J Michael Connor
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  8. Patricia Delai
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  9. David L Glaser
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  10. Martine LeMerrer
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  11. Rolf Morhart
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  12. John G Rogers
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  13. Roger Smith
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  14. James T Triffitt
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  15. J Andoni Urtizberea
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  16. Michael Zasloff
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  17. Matthew A Brown
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  18. Frederick S Kaplan
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Corresponding authors

Correspondence toEileen M Shore or Frederick S Kaplan.

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Competing interests

F.S.K. and E.M.S. have submitted a patent application for the information contained in this manuscript. However, they have waived all their rights to shares of any net royalty income and will derive no personal financial gain from this patent. The other authors declare that they have no financial conflicts of interest.

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Shore, E., Xu, M., Feldman, G. et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.Nat Genet 38, 525–527 (2006). https://doi.org/10.1038/ng1783

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