Research ArticleAutism Spectrum Disorder

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

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Science Translational Medicine  15 Sep 2010:
Vol. 2, Issue 49, pp. 49ra68
DOI: 10.1126/scitranslmed.3001267

Article Information

vol. 2 no. 49 49ra68

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication May 7, 2010
  • Accepted for publication August 26, 2010
  • .

Author Information

  1. Abdul Noor1,
  2. Annabel Whibley2,*,
  3. Christian R. Marshall3,
  4. Peter J. Gianakopoulos1,
  5. Amelie Piton4,5,
  6. Andrew R. Carson3,
  7. Marija Orlic-Milacic1,
  8. Anath C. Lionel3,
  9. Daisuke Sato3,
  10. Dalila Pinto3,
  11. Irene Drmic6,
  12. Carolyn Noakes6,
  13. Lili Senman6,
  14. Xiaoyun Zhang7,
  15. Rong Mo7,
  16. Julie Gauthier4,5,
  17. Jennifer Crosbie8,
  18. Alistair T. Pagnamenta9,
  19. Jeffrey Munson10,
  20. Annette M. Estes11,
  21. Andreas Fiebig12,13,
  22. Andre Franke12,13,
  23. Stefan Schreiber12,13,14,
  24. Alexandre F. R. Stewart15,
  25. Robert Roberts15,
  26. Ruth McPherson15,
  27. Stephen J. Guter16,
  28. Edwin H. Cook Jr.16,
  29. Geraldine Dawson17,18,19,
  30. Gerard D. Schellenberg20,
  31. Agatino Battaglia21,
  32. Elena Maestrini22,
  33. Autism Genome Project Consortium,
  34. Linda Jeng23,
  35. Terry Hutchison24,
  36. Evica Rajcan-Separovic25,
  37. Albert E. Chudley26,
  38. Suzanne M. E. Lewis27,
  39. Xudong Liu28,29,
  40. Jeanette J. Holden28,29,
  41. Bridget Fernandez30,31,
  42. Lonnie Zwaigenbaum32,
  43. Susan E. Bryson33,
  44. Wendy Roberts6,
  45. Peter Szatmari34,
  46. Louise Gallagher35,
  47. Michael R. Stratton36,
  48. Jozef Gecz37,38,
  49. Angela F. Brady39,
  50. Charles E. Schwartz40,
  51. Russell J. Schachar8,
  52. Anthony P. Monaco9,
  53. Guy A. Rouleau4,5,
  54. Chi-chung Hui7,41,
  55. F. Lucy Raymond2,
  56. Stephen W. Scherer3,41, and
  57. John B. Vincent1,42,43,
  1. 1Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada M5T 1R8.
  2. 2Cambridge Institute of Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
  3. 3Program in Genetics and Genome Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
  4. 4Center of Excellence in Neuromics, Centre Hospitalier de l’Université de Montréal, Montreal, Quebec, Canada H2L 4M1.
  5. 5Department of Medicine, University of Montreal, Montreal, Quebec, Canada H3T 1J4.
  6. 6Autism Research Unit, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
  7. 7Program in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
  8. 8Department of Psychiatry, Neurosciences and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.
  9. 9Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.
  10. 10Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98133, USA.
  11. 11Department of Speech and Hearing Sciences, University of Washington, Seattle, WA 98133, USA.
  12. 12Institute for Clinical Molecular Biology, Christian-Albrechts University, Kiel 24098, Germany.
  13. 13Biobank PopGen, Kiel 24098, Germany.
  14. 14Department of Internal Medicine, University of Kiel, Kiel 24118, Germany.
  15. 15University of Ottawa Heart Institute, Ottawa, Ontario, Canada K1Y 4W7.
  16. 16Laboratory of Developmental Neuroscience, University of Illinois, Chicago, IL 60612, USA.
  17. 17Autism Speaks, New York, NY 10016, USA.
  18. 18Department of Psychology, University of Washington, Seattle, WA 98133, USA.
  19. 19Department of Psychiatry, University of North Carolina, Chapel Hill, NC 28372, USA.
  20. 20Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  21. 21Stella Maris Institute for Child and Adolescent Neuropsychiatry, Pisa 56128, Italy.
  22. 22Department of Biology, University of Bologna, Bologna 40126, Italy.
  23. 23Department of Laboratory Medicine, University of California, San Francisco, CA 90095, USA.
  24. 24Department of Neurology, University of California, San Francisco, CA 90095, USA.
  25. 25Department of Pathology (Cytogenetics), Children’s and Women’s Health Centre of British Columbia, Vancouver, British Columbia, Canada V6H 3V5.
  26. 26Program in Genetics and Metabolism, Children’s Hospital, Winnipeg, Manitoba, Canada R3C 1T5.
  27. 27Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z4.
  28. 28Departments of Psychiatry and Physiology, Queen’s University, Kingston, Ontario, Canada K7L 3N6.
  29. 29Autism Research Program and Genomics Research Laboratory, Kingston, Ontario, Canada K7L 3N6.
  30. 30Disciplines of Genetics and Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland, Canada L7G 2B8.
  31. 31Provincial Medical Genetics Program, Health Sciences Center, Eastern Health, St. John’s, Newfoundland, Canada L7G 2B8.
  32. 32Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada T6B 2H3.
  33. 33Departments of Pediatrics and Psychology, Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5.
  34. 34Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada L8S 4L8.
  35. 35Neuropsychiatric Genetics Research Group, Trinity Centre for Health Sciences, Trinity College Dublin, Dublin 6793657, Ireland.
  36. 36Wellcome Trust Sanger Institute, Cambridge CB10 1SD, UK.
  37. 37SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, Australia.
  38. 38University of Adelaide, Adelaide, South Australia 5005, Australia.
  39. 39North West Thames Regional Genetic Centre, Northwick Park Hospital, Harrow HA1 3UJ, UK.
  40. 40JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  41. 41Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A8.
  42. 42Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada M5T 1R8.
  43. 43Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada M5T 1R8.
  1. To whom correspondence should be addressed. E-mail: john_vincent{at}camh.net (J.B.V.); stephen.scherer{at}sickkids.ca (S.W.S.)

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