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Article: Severe intellectual disability and autistic features associated with microduplication 2q23.1

TitleSevere intellectual disability and autistic features associated with microduplication 2q23.1
Authors
Chung, BHYMullegama, SMarshall, CRLionel, ACWeksberg, RDupuis, LBrick, LLi, CScherer, SWAradhya, SStavropoulos, DJElsea, SHMendozaLondono, R
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
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
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.
Persistent Identifierhttp://hdl.handle.net/10722/143777
ISSN
1018-4813
2021 Impact Factor: 5.351
2020 SCImago Journal Rankings: 1.587
PubMed Central ID
PMC3306850
ISI Accession Number ID
WOS: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).

References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorChung, BHYen_HK
dc.contributor.authorMullegama, Sen_HK
dc.contributor.authorMarshall, CRen_HK
dc.contributor.authorLionel, ACen_HK
dc.contributor.authorWeksberg, Ren_HK
dc.contributor.authorDupuis, Len_HK
dc.contributor.authorBrick, Len_HK
dc.contributor.authorLi, Cen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorAradhya, Sen_HK
dc.contributor.authorStavropoulos, DJen_HK
dc.contributor.authorElsea, SHen_HK
dc.contributor.authorMendozaLondono, Ren_HK
dc.date.accessioned2011-12-21T08:54:49Z-
dc.date.available2011-12-21T08:54:49Z-
dc.date.issued2012en_HK
dc.identifier.citationEuropean Journal Of Human Genetics, 2012, v. 20 n. 4, p. 398-403en_HK
dc.identifier.issn1018-4813en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143777-
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.en_HK
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhgen_HK
dc.relation.ispartofEuropean Journal of Human Geneticsen_HK
dc.subject2q23.1 microduplicationen_HK
dc.subjectautism spectrum disorderen_HK
dc.subjectCGH microarrayen_HK
dc.subjectMBD5 geneen_HK
dc.titleSevere intellectual disability and autistic features associated with microduplication 2q23.1en_HK
dc.typeArticleen_HK
dc.identifier.emailChung, BHY:bhychung@hku.hken_HK
dc.identifier.authorityChung, BHY=rp00473en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1038/ejhg.2011.199en_HK
dc.identifier.pmid22085900-
dc.identifier.pmcidPMC3306850-
dc.identifier.scopuseid_2-s2.0-84858337277en_HK
dc.identifier.hkuros199117en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84858337277&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume20en_HK
dc.identifier.issue4en_HK
dc.identifier.spage398en_HK
dc.identifier.epage403en_HK
dc.identifier.eissn1476-5438-
dc.identifier.isiWOS:000301736600007-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChung, BHY=7203043997en_HK
dc.identifier.scopusauthoridMullegama, S=15765795000en_HK
dc.identifier.scopusauthoridMarshall, CR=7201903397en_HK
dc.identifier.scopusauthoridLionel, AC=23393441400en_HK
dc.identifier.scopusauthoridWeksberg, R=7006112330en_HK
dc.identifier.scopusauthoridDupuis, L=14324684200en_HK
dc.identifier.scopusauthoridBrick, L=54388080000en_HK
dc.identifier.scopusauthoridLi, C=14525067900en_HK
dc.identifier.scopusauthoridScherer, SW=55099156200en_HK
dc.identifier.scopusauthoridAradhya, S=6602485140en_HK
dc.identifier.scopusauthoridStavropoulos, DJ=6506830680en_HK
dc.identifier.scopusauthoridElsea, SH=7003860801en_HK
dc.identifier.scopusauthoridMendozaLondono, R=6506126587en_HK
dc.identifier.citeulike10044946-
dc.identifier.issnl1018-4813-

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