Article: Severe intellectual disability and autistic features associated with microduplication 2q23.1
| Title | Severe intellectual disability and autistic features associated with microduplication 2q23.1 | ||||||||||||||||||||||
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| Authors | Chung, BHY6 Mullegama, S Marshall, CR Lionel, AC Weksberg, R Dupuis, L Brick, L Li, C Scherer, SW Aradhya, S Stavropoulos, DJ Elsea, SH MendozaLondono, R | ||||||||||||||||||||||
| Keywords | 2q23.1 microduplication autism spectrum disorder CGH microarray MBD5 gene | ||||||||||||||||||||||
| Issue Date | 2012 | ||||||||||||||||||||||
| Publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg | ||||||||||||||||||||||
| Citation | European Journal Of Human Genetics, 2012, v. 20 n. 4, p. 398-403 [How to Cite?] DOI: http://dx.doi.org/10.1038/ejhg.2011.199 | ||||||||||||||||||||||
| Abstract | We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved. © 2012 Macmillan Publishers Limited All rights reserved. | ||||||||||||||||||||||
| ISSN | 1018-4813 2011 Impact Factor: 4.4 2011 SCImago Journal Rankings: 0.459 | ||||||||||||||||||||||
| DOI | http://dx.doi.org/10.1038/ejhg.2011.199 | ||||||||||||||||||||||
| ISI Accession Number ID | WOS:000301736600007
Funding Information: We thank the families for participating in the study, as well as The Centre for Applied Genomics (http://www.tcag.ca). We also thank A Fiebig, A Franke, and S Schreiber at POPGEN (University of Kiel, Kiel, Germany), A Stewart, R McPherson, and R Roberts of the University of Ottawa Heart Institute (University of Ottawa, Ottawa, Canada), the Wellcome Trust Case Control Consortium (WTCCC), the DECIPHER Consortium, and the Study of Addiction: Genetics and Environment (SAGE) consortium for generously providing population control microarray data. SWS is supported by The Centre for Applied Genomics (http://www.tcag.ca), Genome Canada and the Ontario Genomics Institute, the Canadian Institutes for Health Research (CIHR), the Canadian Institute for Advanced Research (CIFAR), the McLaughlin Centre, the Canada Foundation for Innovation, the Ontario Ministry of Research and Innovation and the Hospital for Sick Children Foundation. SWS holds the GlaxoSmithKline-CIHR Chair in Genetics and Genomics at the University of Toronto and the Hospital for Sick Children. This study was supported, in part, by the Fondation Jerome Lejeune (SHE). | ||||||||||||||||||||||
| PubMed Central ID | PMC3306850 | ||||||||||||||||||||||
| References | References in Scopus |
| dc.contributor.author | Chung, BHY | ||||||||||||||||||||||
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| dc.contributor.author | Mullegama, S | ||||||||||||||||||||||
| dc.contributor.author | Marshall, CR | ||||||||||||||||||||||
| dc.contributor.author | Lionel, AC | ||||||||||||||||||||||
| dc.contributor.author | Weksberg, R | ||||||||||||||||||||||
| dc.contributor.author | Dupuis, L | ||||||||||||||||||||||
| dc.contributor.author | Brick, L | ||||||||||||||||||||||
| dc.contributor.author | Li, C | ||||||||||||||||||||||
| dc.contributor.author | Scherer, SW | ||||||||||||||||||||||
| dc.contributor.author | Aradhya, S | ||||||||||||||||||||||
| dc.contributor.author | Stavropoulos, DJ | ||||||||||||||||||||||
| dc.contributor.author | Elsea, SH | ||||||||||||||||||||||
| dc.contributor.author | MendozaLondono, R | ||||||||||||||||||||||
| dc.date.accessioned | 2011-12-21T08:54:49Z | ||||||||||||||||||||||
| dc.date.available | 2011-12-21T08:54:49Z | ||||||||||||||||||||||
| dc.date.issued | 2012 | ||||||||||||||||||||||
| dc.description.abstract | We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved. © 2012 Macmillan Publishers Limited All rights reserved. | ||||||||||||||||||||||
| dc.description.nature | link_to_OA_fulltext | ||||||||||||||||||||||
| dc.identifier.citation | European Journal Of Human Genetics, 2012, v. 20 n. 4, p. 398-403 [How to Cite?] DOI: http://dx.doi.org/10.1038/ejhg.2011.199 | ||||||||||||||||||||||
| dc.identifier.citeulike | 10044946 | ||||||||||||||||||||||
| dc.identifier.doi | http://dx.doi.org/10.1038/ejhg.2011.199 | ||||||||||||||||||||||
| dc.identifier.epage | 403 | ||||||||||||||||||||||
| dc.identifier.hkuros | 199117 | ||||||||||||||||||||||
| dc.identifier.isi | WOS:000301736600007
Funding Information: We thank the families for participating in the study, as well as The Centre for Applied Genomics (http://www.tcag.ca). We also thank A Fiebig, A Franke, and S Schreiber at POPGEN (University of Kiel, Kiel, Germany), A Stewart, R McPherson, and R Roberts of the University of Ottawa Heart Institute (University of Ottawa, Ottawa, Canada), the Wellcome Trust Case Control Consortium (WTCCC), the DECIPHER Consortium, and the Study of Addiction: Genetics and Environment (SAGE) consortium for generously providing population control microarray data. SWS is supported by The Centre for Applied Genomics (http://www.tcag.ca), Genome Canada and the Ontario Genomics Institute, the Canadian Institutes for Health Research (CIHR), the Canadian Institute for Advanced Research (CIFAR), the McLaughlin Centre, the Canada Foundation for Innovation, the Ontario Ministry of Research and Innovation and the Hospital for Sick Children Foundation. SWS holds the GlaxoSmithKline-CIHR Chair in Genetics and Genomics at the University of Toronto and the Hospital for Sick Children. This study was supported, in part, by the Fondation Jerome Lejeune (SHE). | ||||||||||||||||||||||
| dc.identifier.issn | 1018-4813 2011 Impact Factor: 4.4 2011 SCImago Journal Rankings: 0.459 | ||||||||||||||||||||||
| dc.identifier.issue | 4 | ||||||||||||||||||||||
| dc.identifier.pmcid | PMC3306850 | ||||||||||||||||||||||
| dc.identifier.pmid | 22085900 | ||||||||||||||||||||||
| dc.identifier.scopus | eid_2-s2.0-84858337277 | ||||||||||||||||||||||
| dc.identifier.spage | 398 | ||||||||||||||||||||||
| dc.identifier.uri | http://hdl.handle.net/10722/143777 | ||||||||||||||||||||||
| dc.identifier.volume | 20 | ||||||||||||||||||||||
| dc.language | eng | ||||||||||||||||||||||
| dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg | ||||||||||||||||||||||
| dc.publisher.place | United Kingdom | ||||||||||||||||||||||
| dc.relation.ispartof | European Journal of Human Genetics | ||||||||||||||||||||||
| dc.relation.references | References in Scopus | ||||||||||||||||||||||
| dc.subject | 2q23.1 microduplication | ||||||||||||||||||||||
| dc.subject | autism spectrum disorder | ||||||||||||||||||||||
| dc.subject | CGH microarray | ||||||||||||||||||||||
| dc.subject | MBD5 gene | ||||||||||||||||||||||
| dc.title | Severe intellectual disability and autistic features associated with microduplication 2q23.1 | ||||||||||||||||||||||
| dc.type | Article |
- Hospital for Sick Children, The Centre for Applied Genomics, Toronto
- Virginia Commonwealth University
- GeneDx
- University of Toronto
- McMaster Children's Hospital
- Hospital for Sick Children, Toronto

