Mutation Update

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy†

  1. Johann Böhm1,
  2. Valérie Biancalana1,2,
  3. Elizabeth T. DeChene3,
  4. Marc Bitoun4,
  5. Christopher R. Pierson3,‡,
  6. Elise Schaefer2,
  7. Hatice Karasoy5,
  8. Melissa A. Dempsey6,
  9. Fabrice Klein1,
  10. Nicolas Dondaine2,
  11. Christine Kretz1,
  12. Nicolas Haumesser1,
  13. Claire Poirson1,
  14. Anne Toussaint1,
  15. Rebecca S. Greenleaf3,
  16. Melissa A. Barger3,
  17. Lane J. Mahoney3,
  18. Peter B. Kang3,
  19. Edmar Zanoteli7,
  20. John Vissing8,
  21. Nanna Witting8,
  22. Andoni Echaniz-Laguna9,
  23. Carina Wallgren-Pettersson10,11,
  24. James Dowling12,
  25. Luciano Merlini13,
  26. Anders Oldfors14,
  27. Lilian Bomme Ousager15,
  28. Judith Melki16,
  29. Amanda Krause17,
  30. Christina Jern18,
  31. Acary S. B. Oliveira19,
  32. Florence Petit20,
  33. Aurélia Jacquette21,
  34. Annabelle Chaussenot22,
  35. David Mowat23,
  36. Bruno Leheup24,25,
  37. Michele Cristofano26,
  38. Juan José Poza Aldea27,
  39. Fabrice Michel28,
  40. Alain Furby29,
  41. Jose E. Barcena Llona30,
  42. Rudy Van Coster31,
  43. Enrico Bertini32,
  44. Jon Andoni Urtizberea33,
  45. Valérie Drouin-Garraud34,
  46. Christophe Béroud35,
  47. Bernard Prudhon4,
  48. Melanie Bedford36,
  49. Katherine Mathews37,
  50. Lori A. H. Erby38,39,
  51. Stephen A. Smith40,41,
  52. Jennifer Roggenbuck42,
  53. Carol A. Crowe43,
  54. Allison Brennan Spitale43,
  55. Sheila C. Johal43,
  56. Anthony A. Amato44,
  57. Laurie A. Demmer45,
  58. Jessica Jonas45,
  59. Basil T. Darras46,
  60. Thomas D. Bird47,
  61. Mercy Laurino48,
  62. Selman I. Welt49,§,
  63. Cynthia Trotter49,¶,
  64. Pascale Guicheney4,
  65. Soma Das6,
  66. Jean-Louis Mandel1,2,
  67. Alan H. Beggs3,
  68. Jocelyn Laporte1,*

Article first published online: 4 APR 2012

DOI: 10.1002/humu.22067

Issue

Human Mutation

Human Mutation

Special Issue: Focus on CNV Detection with Diagnostic Arrays

Volume 33, Issue 6, pages 949–959, June 2012

Additional Information

How to Cite

Böhm, J., Biancalana, V., DeChene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., Poirson, C., Toussaint, A., Greenleaf, R. S., Barger, M. A., Mahoney, L. J., Kang, P. B., Zanoteli, E., Vissing, J., Witting, N., Echaniz-Laguna, A., Wallgren-Pettersson, C., Dowling, J., Merlini, L., Oldfors, A., Bomme Ousager, L., Melki, J., Krause, A., Jern, C., Oliveira, A. S. B., Petit, F., Jacquette, A., Chaussenot, A., Mowat, D., Leheup, B., Cristofano, M., Poza Aldea, J. J., Michel, F., Furby, A., Llona, J. E. B., Van Coster, R., Bertini, E., Urtizberea, J. A., Drouin-Garraud, V., Béroud, C., Prudhon, B., Bedford, M., Mathews, K., Erby, L. A. H., Smith, S. A., Roggenbuck, J., Crowe, C. A., Brennan Spitale, A., Johal, S. C., Amato, A. A., Demmer, L. A., Jonas, J., Darras, B. T., Bird, T. D., Laurino, M., Welt, S. I., Trotter, C., Guicheney, P., Das, S., Mandel, J.-L., Beggs, A. H. and Laporte, J. (2012), Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy. Hum. Mutat., 33: 949–959. doi: 10.1002/humu.22067

Author Information

  1. 1

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch, France

  2. 2

    Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France

  3. 3

    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts

  4. 4

    Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

  5. 5

    Department of Neurology, Ege University School of Medicine, Izmir, Turkey

  6. 6

    Human Genetics, The University of Chicago, Chicago, Illinois

  7. 7

    Department of Neurology, Medical School of the University of Sao Paulo Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil

  8. 8

    Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

  9. 9

    Department of Neurology, Hopital Civil, Strasbourg, France

  10. 10

    The Folkhälsan Institute of Genetics, Helsinki, Finland

  11. 11

    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland

  12. 12

    Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan

  13. 13

    Laboratory of Musculoskeletal Cell Biology, Instituto Ortopedico Rizzoli, Bologna, Italy

  14. 14

    Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg, Sweden

  15. 15

    Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

  16. 16

    INSERM UMR788, University Paris 11, Hôpital du Kremlin Bicetre, Le Kremlin-Bicetre, France

  17. 17

    Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa

  18. 18

    Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden

  19. 19

    Department of Neurology, Federal University of São Paulo, São Paulo, Brazil

  20. 20

    Service Génétique, Centre Hospitalier Regional Universitaire, Lille, France

  21. 21

    Department Génétique, GH Pitié-Salpêtrière, Paris, France

  22. 22

    Service Génétique Médicale, Centre Hospitalier Universitaire Nice, Nice, France

  23. 23

    Department Medical Genetics, Sydney Children's Hospital, Randwick, Australia

  24. 24

    Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy, Nancy, France

  25. 25

    Faculté de Médecine, Université de Lorraine, Vandoeuvre-les-Nancy, France

  26. 26

    Department of Neurology, Azienda ospedaliera Pisana, Pisa, Italy

  27. 27

    Servicio de Neurologia, Hospital Donostia, San Sebastian, Spain

  28. 28

    Department of Neuromuscular Investigations and Pathologies, CHU, Besancon, France

  29. 29

    Service de Neurologie, CHU, Hôpital Nord, Saint Etienne, France

  30. 30

    Neurologia, Hospital Universitario de Cruces, Baracaldo, Spain

  31. 31

    Pediatric Neurology, Gent University Hospital, Gent, Belgium

  32. 32

    Department of Neurosciences, Bambino Gesu' Children's Research Hospital, Rome, Italy

  33. 33

    Hôpital Marin, Hendaye, France

  34. 34

    Service Génétique, Hôpitaux de Rouen, France

  35. 35

    Laboratoire de Génétique Moléculaire, INSERM U827, Montpellier, France

  36. 36

    Genetics Programme, North York General Hospital, Toronto, Canada

  37. 37

    Carver College of Medicine, University of Iowa, Iowa City, Iowa

  38. 38

    Department of Health, Behavior and Society, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland

  39. 39

    Department of Neurology and Neurosurgery, The John Hopkins School of Medicine, Baltimore, Maryland

  40. 40

    Hennepin County Medical Center, Minneapolis, Minnesota

  41. 41

    Department of Neurology, Gillette Children's Specialty Healthcare, Saint Paul, Minnesota

  42. 42

    Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota

  43. 43

    Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio

  44. 44

    Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts

  45. 45

    Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts

  46. 46

    Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts

  47. 47

    Departments of Neurology and Medicine, University of Washington and VA Medical Center, Seattle, Washington

  48. 48

    Department of Medicine, University of Washington, Seattle, Washington

  49. 49

    Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas

  1. ‡

    Nationwide Children's Hospital, Ohio State University, Columbus, Ohio

  2. §

    Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee.

  3. Genzyme Genetics, Westborough, Massachusetts.

*Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, F-67404 Illkirch, France.

  1. †

    Communicated by Arnold Munnich

Publication History

  1. Issue published online: 7 MAY 2012
  2. Article first published online: 4 APR 2012
  3. Accepted manuscript online: 6 MAR 2012 10:57AM EST
  4. Manuscript Accepted: 20 FEB 2012
  5. Manuscript Received: 13 NOV 2011

Funded by

  • Institut National de la Sante et de la Recherche Medicale
  • Centre National de la Recherche Scientifique
  • University of Strasbourg; College de France
  • Association Francaise contre les Myopathies
  • Fondation Recherche Medicale. Grant Number: FRM DEQ20071210538
  • Agence Nationale de la Recherche. Grant Number: ANR-06-MRAR-023, ANR-08-GENOPAT-005
  • the Muscular Dystrophy Association
  • National Institutes of Health. Grant Number: NIH R01 AR044345, P50 NS040828
  • the Lee and Penny Anderson Family Foundation
  • the Joshua Frase Foundation
  • the E-Rare Program; European Community's Seventh Framework Program FP7/2007–2013 (200754—the GEN2PHEN project for development of the UMD tool used to construct the UMD-DNM2 database)

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