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Article: Severe intellectual disability and autistic features associated with microduplication 2q23.1
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TitleSevere intellectual disability and autistic features associated with microduplication 2q23.1
 
AuthorsChung, BHY5
Mullegama, S2
Marshall, CR1
Lionel, AC1 4
Weksberg, R5 4
Dupuis, L5
Brick, L6
Li, C6
Scherer, SW1 4
Aradhya, S3
Stavropoulos, DJ5 4
Elsea, SH2 2
MendozaLondono, R5
 
Keywords2q23.1 microduplication
autism spectrum disorder
CGH microarray
MBD5 gene
 
Issue Date2012
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
CitationEuropean 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
 
AbstractWe 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.
 
ISSN1018-4813
2012 Impact Factor: 4.319
2012 SCImago Journal Rankings: 1.696
 
DOIhttp://dx.doi.org/10.1038/ejhg.2011.199
 
PubMed Central IDPMC3306850
 
ISI Accession Number IDWOS:000301736600007
Funding AgencyGrant Number
Centre for Applied Genomics
Genome Canada
Ontario Genomics Institute
Canadian Institutes for Health Research (CIHR)
Canadian Institute for Advanced Research (CIFAR)
McLaughlin Centre
Ontario Ministry of Research and Innovation
Hospital for Sick Children Foundation
Fondation Jerome Lejeune
Canada Foundation for Innovation
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).

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorChung, BHY
 
dc.contributor.authorMullegama, S
 
dc.contributor.authorMarshall, CR
 
dc.contributor.authorLionel, AC
 
dc.contributor.authorWeksberg, R
 
dc.contributor.authorDupuis, L
 
dc.contributor.authorBrick, L
 
dc.contributor.authorLi, C
 
dc.contributor.authorScherer, SW
 
dc.contributor.authorAradhya, S
 
dc.contributor.authorStavropoulos, DJ
 
dc.contributor.authorElsea, SH
 
dc.contributor.authorMendozaLondono, R
 
dc.date.accessioned2011-12-21T08:54:49Z
 
dc.date.available2011-12-21T08:54:49Z
 
dc.date.issued2012
 
dc.description.abstractWe 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.naturelink_to_OA_fulltext
 
dc.identifier.citationEuropean 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.citeulike10044946
 
dc.identifier.doihttp://dx.doi.org/10.1038/ejhg.2011.199
 
dc.identifier.eissn1476-5438
 
dc.identifier.epage403
 
dc.identifier.hkuros199117
 
dc.identifier.isiWOS:000301736600007
Funding AgencyGrant Number
Centre for Applied Genomics
Genome Canada
Ontario Genomics Institute
Canadian Institutes for Health Research (CIHR)
Canadian Institute for Advanced Research (CIFAR)
McLaughlin Centre
Ontario Ministry of Research and Innovation
Hospital for Sick Children Foundation
Fondation Jerome Lejeune
Canada Foundation for Innovation
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.issn1018-4813
2012 Impact Factor: 4.319
2012 SCImago Journal Rankings: 1.696
 
dc.identifier.issue4
 
dc.identifier.pmcidPMC3306850
 
dc.identifier.pmid22085900
 
dc.identifier.scopuseid_2-s2.0-84858337277
 
dc.identifier.spage398
 
dc.identifier.urihttp://hdl.handle.net/10722/143777
 
dc.identifier.volume20
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofEuropean Journal of Human Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject2q23.1 microduplication
 
dc.subjectautism spectrum disorder
 
dc.subjectCGH microarray
 
dc.subjectMBD5 gene
 
dc.titleSevere intellectual disability and autistic features associated with microduplication 2q23.1
 
dc.typeArticle
 
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Author Affiliations
  1. The Centre for Applied Genomics University of Toronto
  2. Virginia Commonwealth University
  3. GeneDx
  4. University of Toronto
  5. Hospital for Sick Children University of Toronto
  6. McMaster Children's Hospital