Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability-Reference-Cited by-同舟云学术

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

Published:2010-09-15 Issue:49 Volume:2 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Noor Abdul¹,Whibley Annabel²,Marshall Christian R.³,Gianakopoulos Peter J.¹,Piton Amelie⁴⁵,Carson Andrew R.³,Orlic-Milacic Marija¹,Lionel Anath C.³,Sato Daisuke³,Pinto Dalila³,Drmic Irene⁶,Noakes Carolyn⁶,Senman Lili⁶,Zhang Xiaoyun⁷,Mo Rong⁷,Gauthier Julie⁴⁵,Crosbie Jennifer⁸,Pagnamenta Alistair T.⁹,Munson Jeffrey¹⁰,Estes Annette M.¹¹,Fiebig Andreas¹²¹³,Franke Andre¹²¹³,Schreiber Stefan¹²¹³¹⁴,Stewart Alexandre F. R.¹⁵,Roberts Robert¹⁵,McPherson Ruth¹⁵,Guter Stephen J.¹⁶,Cook Edwin H.¹⁶,Dawson Geraldine¹⁷¹⁸¹⁹,Schellenberg Gerard D.²⁰,Battaglia Agatino²¹,Maestrini Elena²²,Jeng Linda²³,Hutchison Terry²⁴,Rajcan-Separovic Evica²⁵,Chudley Albert E.²⁶,Lewis Suzanne M. E.²⁷,Liu Xudong²⁸²⁹,Holden Jeanette J.²⁸²⁹,Fernandez Bridget³⁰³¹,Zwaigenbaum Lonnie³²,Bryson Susan E.³³,Roberts Wendy⁶,Szatmari Peter³⁴,Gallagher Louise³⁵,Stratton Michael R.³⁶,Gecz Jozef³⁷³⁸,Brady Angela F.³⁹,Schwartz Charles E.⁴⁰,Schachar Russell J.⁸,Monaco Anthony P.⁹,Rouleau Guy A.⁴⁵,Hui Chi-chung⁷⁴¹,Lucy Raymond F.²,Scherer Stephen W.³⁴¹,Vincent John B.¹⁴²⁴³,

Affiliation:

1. Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada M5T 1R8.

2. Cambridge Institute of Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.

3. Program in Genetics and Genome Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.

4. Center of Excellence in Neuromics, Centre Hospitalier de l’Université de Montréal, Montreal, Quebec, Canada H2L 4M1.

5. Department of Medicine, University of Montreal, Montreal, Quebec, Canada H3T 1J4.

6. Autism Research Unit, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.

7. Program in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.

8. Department of Psychiatry, Neurosciences and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8.

9. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.

10. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98133, USA.

11. Department of Speech and Hearing Sciences, University of Washington, Seattle, WA 98133, USA.

12. Institute for Clinical Molecular Biology, Christian-Albrechts University, Kiel 24098, Germany.

13. Biobank PopGen, Kiel 24098, Germany.

14. Department of Internal Medicine, University of Kiel, Kiel 24118, Germany.

15. University of Ottawa Heart Institute, Ottawa, Ontario, Canada K1Y 4W7.

16. Laboratory of Developmental Neuroscience, University of Illinois, Chicago, IL 60612, USA.

17. Autism Speaks, New York, NY 10016, USA.

18. Department of Psychology, University of Washington, Seattle, WA 98133, USA.

19. Department of Psychiatry, University of North Carolina, Chapel Hill, NC 28372, USA.

20. Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

21. Stella Maris Institute for Child and Adolescent Neuropsychiatry, Pisa 56128, Italy.

22. Department of Biology, University of Bologna, Bologna 40126, Italy.

23. Department of Laboratory Medicine, University of California, San Francisco, CA 90095, USA.

24. Department of Neurology, University of California, San Francisco, CA 90095, USA.

25. Department of Pathology (Cytogenetics), Children’s and Women’s Health Centre of British Columbia, Vancouver, British Columbia, Canada V6H 3V5.

26. Program in Genetics and Metabolism, Children’s Hospital, Winnipeg, Manitoba, Canada R3C 1T5.

27. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z4.

28. Departments of Psychiatry and Physiology, Queen’s University, Kingston, Ontario, Canada K7L 3N6.

29. Autism Research Program and Genomics Research Laboratory, Kingston, Ontario, Canada K7L 3N6.

30. Disciplines of Genetics and Medicine, Memorial University of Newfoundland, St. John’s, Newfoundland, Canada L7G 2B8.

31. Provincial Medical Genetics Program, Health Sciences Center, Eastern Health, St. John’s, Newfoundland, Canada L7G 2B8.

32. Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada T6B 2H3.

33. Departments of Pediatrics and Psychology, Dalhousie University, Halifax, Nova Scotia, Canada B3H 3J5.

34. Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada L8S 4L8.

35. Neuropsychiatric Genetics Research Group, Trinity Centre for Health Sciences, Trinity College Dublin, Dublin 6793657, Ireland.

36. Wellcome Trust Sanger Institute, Cambridge CB10 1SD, UK.

37. SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, Australia.

38. University of Adelaide, Adelaide, South Australia 5005, Australia.

39. North West Thames Regional Genetic Centre, Northwick Park Hospital, Harrow HA1 3UJ, UK.

40. JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.

41. Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A8.

42. Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada M5T 1R8.

43. Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada M5T 1R8.

Abstract

Mutations of the X-linked gene PTCHD1 are associated with autism spectrum disorders and intellectual disability.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference39 articles.

1. Mapping autism risk loci using genetic linkage and chromosomal rearrangements

2. Strong Association of De Novo Copy Number Mutations with Autism

3. Structural Variation of Chromosomes in Autism Spectrum Disorder

4. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

5. Contribution of SHANK3 Mutations to Autism Spectrum Disorder

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