Phenotypic spectrum associated withPTCHD1deletions and truncating mutations includes intellectual disability and autism spectrum disorder-Reference-Cited by-同舟云学术

Phenotypic spectrum associated withPTCHD1deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Published:2014-10-14 Issue:3 Volume:88 Page:224-233
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Chaudhry A.¹,Noor A.²³,Degagne B.³,Baker K.⁴⁵,Bok L. A.⁶,Brady A. F.⁷,Chitayat D.¹⁸,Chung B. H.⁹,Cytrynbaum C.¹¹⁰,Dyment D.¹¹,Filges I.¹²,Helm B.¹³,Hutchison H. T.¹⁴,Jeng L. J. B.¹⁵,Laumonnier F.¹⁶,Marshall C. R.¹⁷,Menzel M.¹⁸,Parkash S.¹⁹²⁰,Parker M. J.²¹,Raymond L. F.⁴⁵,Rideout A. L.¹⁹,Roberts W.²²,Rupps R.²³,Schanze I.²⁴,Schrander-Stumpel C. T. R. M.²⁵,Speevak M. D.²⁶,Stavropoulos D. J.²¹⁷,Stevens S. J. C.²⁵,Thomas E. R. A.²⁷,Toutain A.¹⁶²⁸,Vergano S.¹³,Weksberg R.¹²⁹³⁰,Scherer S. W.¹⁷²⁹³⁰,Vincent J. B.³²⁹³¹,Carter M. T.¹²²,

Affiliation:

1. Department of Pediatrics; Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; Toronto Ontario Canada

2. Department of Pathology and Laboratory Medicine; The Hospital for Sick Children; Toronto Ontario Canada

3. Molecular Neuropsychiatry and Development Lab; Campbell Family Mental Health Research Institute, The Centre for Addiction and Mental Health; Toronto Ontario Canada

4. Department of Medical Genetics; Cambridge UK

5. Institute for Medical Research Wellcome Trust; University of Cambridge; Cambridge UK

6. Department of Clinical Genetics, Unit of Cytogenetics; Maastricht University Medical Center; Maastricht The Netherlands

7. North West Thames Regional Genetics Service; Northwick Park Hospital; Harrow UK

8. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada

9. Department of Pediatrics and Adolescent Medicine, Department of Obstetrics and Gynaecology, Centre for Reproduction, Development and Growth, Centre for Genomic Sciences; The University of Hong Kong; Pok Fu Lam, Hong Kong

10. Genetics and Genome Biology; The Hospital for Sick Children; Toronto Ontario Canada

11. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

12. Division of Medical Genetics, Department of Biomedicine; University Hospital Basel; Basel Switzerland

13. Division of Medical Genetics and Metabolism; Children's Hospital of The King's Daughters/Eastern Virginia Medical School; Norfolk VA USA

14. Departments of Neurology and Pediatrics; UCSF Fresno Medical Education Program; San Francisco CA USA

15. Department of Laboratory Medicine; University of California; San Francisco CA USA

16. UMR_INSERM U930 Faculté de Médecine; Université François Rabelais; Tours France

17. The Centre for Applied Genomics; The Hospital for Sick Children; Toronto Ontario Canada

18. CeGaT GmbH; Tuebingen Germany

19. Maritime Medical Genetics Service; IWK Health Centre; Halifax Nova Scotia Canada

20. Dalhousie University Halifax; Nova Scotia Canada

21. Sheffield Clinical Genetics Service; Sheffield Children's Hospital; Western Bank Sheffield UK

22. Autism Research Unit; The Hospital for Sick Children; Toronto Ontario Canada

23. Department of Medical Genetics, Children's and Women's Health Centre; University of British Columbia; Vancouver BC Canada

24. Institute of Human Genetics; University Hospital Magedeburg; Magedeburg Germany

25. Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW); Maastricht UMC+; Maastricht The Netherlands

26. Credit Valley Site, Trillium Health Partners, Department of Laboratory Medicine and Pathobiology; University of Toronto; Toronto Onatario Canada

27. Clinical Genetics Department; Guy's and St Thomas' NHS Foundation Trust; London UK

28. Service de Génétique; Centre Hospitalo-Universitaire; Tours France

29. Institute of Medical Science; Toronto Ontario Canada

30. McLaughlin Centre and Department of Molecular Genetics; Toronto Ontario Canada

31. Department of Psychiatry; University of Toronto; Toronto Ontario Canada

Funder

Canadian Institutes of Health Research

Wellcome Trust

European Union

Fondation de France

Genome Canada

Ontario Genomics Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Structural variation of chromosomes in autism spectrum disorder;Marshall;Am J Hum Genet,2008

2. Disruption at the PTCHD1 locus on Xp22.11 in Autism spectrum disorder and intellectual disability;Noor;Sci Transl Med,2010

3. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability;Whibley;Am J Hum Genet,2010

4. Functional impact of global rare copy number variation in autism spectrum disorders;Pinto;Nature,2010

5. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism;Filges;Clin Genet,2011

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