Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
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Mutations of the X-linked gene PTCHD1 are associated with autism spectrum disorders and intellectual disability.
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De novo or transmitted CNVs at 15q11.2-q13, 16p11.2, and the X-linked PTCHD1-PTCHD1AS locus contribute to ASD risk.
“De novo or transmitted CNVs, such as 15q11.2–q13 duplications of the affected region in Prader-Willi syndrome (PWS [MIM 176270]) and Angelman syndrome (AS [MIM 105830]), 16p11.2 deletion (MIM 611913), 16p11.2 duplication (MIM 614671), and X-linked deletions including the PTCHD1-PTCHD1AS locus (MIM 300828), have also been found to contribute to risk.6,13,14”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [14]
A de novo deletion intersecting PTCHD1AS in a male was replicated.
“We replicated previous observations, such as a de novo deletion intersecting PTCHD1AS in a male (adding to the evidence that both PTCHD1 and PTCHD1AS contribute to ASD risk14)”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [14]
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- Authors
- Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., Drmic, I., Noakes, C., Senman, L., Zhang, X., Mo, R., Gauthier, J., Crosbie, J., Pagnamenta, A. T., Munson, J., Estes, A. M., Fiebig, A., Franke, A., Schreiber, S., Stewart, A. F. R., Roberts, R., McPherson, R., Guter, S. J., Cook, E. H., Dawson, G., Schellenberg, G. D., Battaglia, A., Maestrini, E., Autism Genome Project Consortium, Jeng, L., Hutchison, T., Rajcan-Separovic, E., Chudley, A. E., Lewis, S. M. E., Liu, X., Holden, J. J., Fernandez, B., Zwaigenbaum, L., Bryson, S. E., Roberts, W., Szatmari, P., Gallagher, L., Stratton, M. R., Gecz, J., Brady, A. F., Schwartz, C. E., Schachar, R. J., Monaco, A. P., Rouleau, G. A., Hui, C.-C., Lucy Raymond, F., Scherer, S. W., & Vincent, J. B.
- Affiliations
- Centre for Addiction and Mental Health (CA)
- University of Cambridge (GB)
- Hospital for Sick Children (CA)
- Center of Excellence in Neuromics, Centre Hospitalier de l’Université de Montréal, Montreal, Quebec, Canada H2L 4M1.
- Centre Hospitalier de l’Université de Montréal (CA)
- Centre for Human Genetics (GB)
- University of Washington (US)
- Christian-Albrechts-Universität zu Kiel (DE)
- Institute for Clinical Molecular Biology, Christian-Albrechts University, Kiel 24098, Germany.
- Ottawa Heart Institute (CA)
- University of Illinois Chicago (US)
- Autism Speaks, New York, NY 10016, USA.
- University of Pennsylvania (US)
- Stella Maris Institute for Child and Adolescent Neuropsychiatry, Pisa 56128, Italy.
- University of Bologna (IT)
- University of California, San Francisco (US)
- Department of Pathology (Cytogenetics), Children’s and Women’s Health Centre of British Columbia, Vancouver, British Columbia, Canada V6H 3V5.
- Children's Hospital of Winnipeg (CA)
- Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z4.
- Queen's University (CA)
- Memorial University of Newfoundland (CA)
- University of Alberta (CA)
- Dalhousie University (CA)
- Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada L8S 4L8.
- Trinity College Dublin (IE)
- Wellcome Sanger Institute (GB)
- SA Pathology, Women’s and Children’s Hospital, North Adelaide, South Australia 5006, Australia.
- Northwick Park Hospital (GB)
- Greenwood Genetic Center (US)
- University of Toronto (CA)
- Cambridge Institute of Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
- Corresponding author
- Whibley, Annabel
- Scherer, Stephen W.
- Vincent, John B.
- ORCID
- Noor, Abdul
- Whibley, Annabel
- Marshall, Christian R.
- Orlic-Milacic, Marija
- Lionel, Anath C.
- Sato, Daisuke
- Pinto, Dalila
- Drmic, Irene
- Zhang, Xiaoyun
- Crosbie, Jennifer
- Pagnamenta, Alistair T.
- Munson, Jeffrey
- Estes, Annette M.
- Schreiber, Stefan
- Stewart, Alexandre F. R.
- McPherson, Ruth
- Guter, Stephen J.
- Cook, Edwin H.
- Schellenberg, Gerard D.
- Battaglia, Agatino
- Maestrini, Elena
- Jeng, Linda
- Liu, Xudong
- Fernandez, Bridget
- Zwaigenbaum, Lonnie
- Gallagher, Louise
- Stratton, Michael R.
- Schwartz, Charles E.
- Schachar, Russell J.
- Monaco, Anthony P.
- Rouleau, Guy A.
- Hui, Chi-chung
- Scherer, Stephen W.
- Venue
- Science Translational Medicine
- Published
- 2010-09-15
- Volume
- 2
- Issue
- 49
- Pages
- 49ra68-49ra68
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC2987731
- OpenAlex
- W2143421478
- Cited by
- 193
- References
- 38
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 4 · 2023: 10 · 2022: 10 · 2021: 8 · 2020: 11 · 2019: 10 · 2018: 8 · 2017: 13 · 2016: 10 · 2015: 8 · 2014: 23 · 2013: 20 · 2012: 20
- FWCI
- 12.96
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Autism Speaks (AS2077, AS2173)
- Wellcome Trust
- Canadian Institutes of Health Research
- National Institute on Drug Abuse (R01DA019963, R01DA013423)
- National Human Genome Research Institute (U01HG004422)
- National Cancer Institute (P01CA089392)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055751, U19HD035465, HD35465)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, intellectual disability, missense mutations, de novo deletion, dihydropyrimidine dehydrogenase, DPP6, non-coding RNA, 5'-flanking region, multifactorial inheritance, learning disabilities
- MeSH terms
- Animals, Autistic Disorder, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Female, Humans, Male, Membrane Proteins, Intellectual Disability, Mutation, Nerve Tissue Proteins, Potassium Channels, In Situ Hybridization, Reverse Transcriptase Polymerase Chain Reaction, Oligonucleotide Array Sequence Analysis, Genes, X-Linked, Mice
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