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Research Article

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures†‡§

  1. Gaelle Thierry1,
  2. Claire Bénéteau1,
  3. Olivier Pichon1,
  4. Elisabeth Flori2,
  5. Bertrand Isidor1,
  6. Françoise Popelard3,
  7. Marie-Ange Delrue4,
  8. Laetitia Duboscq-Bidot5,
  9. Ann-Charlotte Thuresson6,
  10. Bregje W.M. van Bon7,
  11. Dorothée Cailley4,
  12. Caroline Rooryck4,
  13. Agathe Paubel8,
  14. Corinne Metay9,
  15. Anne Dusser10,
  16. Laurent Pasquier11,
  17. Mylène Béri12,
  18. Céline Bonnet12,
  19. Sylvie Jaillard13,
  20. Christèle Dubourg14,15,
  21. Bassim Tou16,
  22. Marie-Pierre Quéré17,
  23. Cecilia Soussi-Zander6,
  24. Annick Toutain8,
  25. Didier Lacombe4,
  26. Benoit Arveiler4,
  27. Bert B.A. de Vries7,
  28. Philippe Jonveaux12,
  29. Albert David1,
  30. Cédric Le Caignec1,5,*

Article first published online: 7 JUN 2012

DOI: 10.1002/ajmg.a.35423

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 158A, Issue 7, pages 1633–1640, July 2012

Additional Information

How to Cite

Thierry, G., Bénéteau, C., Pichon, O., Flori, E., Isidor, B., Popelard, F., Delrue, M.-A., Duboscq-Bidot, L., Thuresson, A.-C., van Bon, B. W.M., Cailley, D., Rooryck, C., Paubel, A., Metay, C., Dusser, A., Pasquier, L., Béri, M., Bonnet, C., Jaillard, S., Dubourg, C., Tou, B., Quéré, M.-P., Soussi-Zander, C., Toutain, A., Lacombe, D., Arveiler, B., de Vries, B. B.A., Jonveaux, P., David, A. and Le Caignec, C. (2012), Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am. J. Med. Genet., 158A: 1633–1640. doi: 10.1002/ajmg.a.35423

Author Information

  1. 1

    CHU Nantes, Service de Génétique Médicale, Nantes, France

  2. 2

    Service de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France

  3. 3

    Service de Pédiatrie, Centre Hospitalier Jean Monnet, Epinal, France

  4. 4

    Service de Génétique Médicale, Hôpital Pellegrin, Université de Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), Bordeaux, France

  5. 5

    Inserm, UMR_S915, l'Institut du Thorax, Nantes, France

  6. 6

    Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden

  7. 7

    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

  8. 8

    Service de Génétique Médicale, CHU, Tours, France

  9. 9

    Plateforme Génétique Constitutionnelle CGH Array, Hôpital Henri Mondor, Créteil, France

  10. 10

    Service de Neurologie Pédiatrique, CHU Bicêtre, Le Kremlin Bicêtre, France

  11. 11

    Service de Génétique Médicale, CLAD Ouest, Hôpital Sud, CHU Rennes, Rennes, France

  12. 12

    Laboratoire de Génétique, CHU, Nancy, France

  13. 13

    Laboratoire de Cytogénétique, CHU Pontchaillou, Rennes Cedex, France

  14. 14

    Institut de Génétique et Développement, CNRS UMR 6061, Université de Rennes 1, Faculté de Médecine, Rennes, France

  15. 15

    Laboratoire de Génétique Moléculaire, CHU Pontchaillou, Rennes, France

  16. 16

    Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Universitaire de Bicêtre, Secteur Paul Broca, Le Kremlin Bicêtre, France

  17. 17

    CHU Nantes, Service de Radiologie Pédiatrique, Nantes, France

*Service de Génétique Médicale, CHU, 9, Quai Moncousu 44093 Nantes, France.

  1. †

    The authors declare that they have no conflicts of interest.

  2. ‡

    How to Cite this Article: Thierry G, Bénéteau C, Pichon O, Flori E, Isidor B, Popelard F, Delrue M-A, Duboscq-Bidot L, Thuresson A-C, van Bon BWM, Cailley D, Rooryck C, Paubel A, Metay C, Dusser A, Pasquier L, Béri M, Bonnet C, Jaillard S, Dubourg C, Tou B, Quéré M-P, Soussi-Zander C, Toutain A, Lacombe D, Arveiler B, de Vries BBA, Jonveaux P, David A, Le Caignec C. 2012. Molecular characterization of 1q44 microdeletion in eleven patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet Part A. 158A:1633–1640.

  3. §

    Gaelle Thierry and Claire Bénéteau contributed equally to this work.

Publication History

  1. Issue published online: 18 JUN 2012
  2. Article first published online: 7 JUN 2012
  3. Manuscript Accepted: 26 MAR 2012
  4. Manuscript Received: 21 DEC 2011

Funded by

  • La Fondation pour la Recherche Médicale

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