Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis (original) (raw)

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Acknowledgements

We thank all the families who participated in this research; M. Priore, G. Rose and F. Field of the International Skeletal Dysplasia Registry for their assistance in collecting the families; N. Ehtesham for her assistance with preparing the figures; and K. Lyons for discussions regarding the expression of filamin B during mouse development. This work was supported in part by grants from the US National Institute of Health (to D.H.C., D.K. and D.L.R.), the Cedars-Sinai General Clinical Research Center, the Drown Foundation (to D.K.) and the National Organization for Rare Disorders (to J.M.G.). D.H.C. is the recipient of a Winnick Family Foundation Clinical Scholars award. S.P.R. and T.M. are supported by the Child Health Research Foundation of New Zealand.

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Author notes

  1. Deborah Krakow and Stephen P Robertson: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Cedars-Sinai Research Institute, 8700 Beverly Blvd., Los Angeles, 90048, California, USA
    Deborah Krakow & Eiman T Sebald
  2. Ahmanson Department of Pediatrics, Cedars-Sinai Research Institute, 8700 Beverly Blvd., Los Angeles, 90048, California, USA
    Deborah Krakow, Lily M King, Cristina Bertolotto, Dora Acuna, John M Graham Jr, Ralph S Lachman, David L Rimoin & Daniel H Cohn
  3. Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Deborah Krakow
  4. Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
    Stephen P Robertson & Timothy Morgan
  5. MIST Institute, Cedars-Sinai Research Institute, Los Angeles, California, USA
    Sebastian Wachsmann-Hogiu
  6. Department of Physiology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    Sandor S Shapiro
  7. Department of Clinical and Laboratory Medicine, Yamanashi Medical University, Yamanashi, Japan
    Toshiro Takafuta
  8. Northern Regional Genetics Service, Auckland, New Zealand
    Salim Aftimos
  9. Instituto da Criança, Faculdade de Medicina da Universade São Paulo, Brazil
    Chong Ae Kim
  10. Department of Medical Genetics, Addenbrookes Hospital, Cambridge, UK
    Helen Firth
  11. Medical Genetics Department, Medical Sciences School, State University of Campinas, Campinas, São Paulo, Brazil
    Carlos E Steiner
  12. Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France
    Valerie Cormier-Daire
  13. Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Andrea Superti-Furga & Luisa Bonafe
  14. Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    John M Graham Jr, David L Rimoin & Daniel H Cohn
  15. The Permanente Medical Group, Sacramento, California, USA
    Arthur Grix
  16. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Carlos A Bacino
  17. Eastern Ontario Regional Genetics Program, Ottawa, Canada
    Judith Allanson
  18. Department of Pediatrics, Schneider Children's Hospital at North Shore/NYU Medical Center, Manhasset, New York, USA
    Martin G Bialer
  19. Department of Radiology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Ralph S Lachman
  20. Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    David L Rimoin & Daniel H Cohn

Authors

  1. Deborah Krakow
  2. Stephen P Robertson
  3. Lily M King
  4. Timothy Morgan
  5. Eiman T Sebald
  6. Cristina Bertolotto
  7. Sebastian Wachsmann-Hogiu
  8. Dora Acuna
  9. Sandor S Shapiro
  10. Toshiro Takafuta
  11. Salim Aftimos
  12. Chong Ae Kim
  13. Helen Firth
  14. Carlos E Steiner
  15. Valerie Cormier-Daire
  16. Andrea Superti-Furga
  17. Luisa Bonafe
  18. John M Graham Jr
  19. Arthur Grix
  20. Carlos A Bacino
  21. Judith Allanson
  22. Martin G Bialer
  23. Ralph S Lachman
  24. David L Rimoin
  25. Daniel H Cohn

Corresponding authors

Correspondence toDeborah Krakow or Stephen P Robertson.

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Competing interests

The authors declare no competing financial interests.

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Krakow, D., Robertson, S., King, L. et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.Nat Genet 36, 405–410 (2004). https://doi.org/10.1038/ng1319

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