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dc.contributor.authorKumar, R.-
dc.contributor.authorCorbett, M.-
dc.contributor.authorVan Bon, B.-
dc.contributor.authorGardner, A.-
dc.contributor.authorWoenig, J.-
dc.contributor.authorJolly, L.-
dc.contributor.authorDouglas, E.-
dc.contributor.authorFriend, K.-
dc.contributor.authorTan, C.-
dc.contributor.authorVan Esch, H.-
dc.contributor.authorHolvoet, M.-
dc.contributor.authorRaynaud, M.-
dc.contributor.authorField, M.-
dc.contributor.authorLeffler, M.-
dc.contributor.authorBudny, B.-
dc.contributor.authorWisniewska, M.-
dc.contributor.authorBadura-Stronka, M.-
dc.contributor.authorLatos-Bieleńska, A.-
dc.contributor.authorBatanian, J.-
dc.contributor.authorRosenfeld, J.-
dc.contributor.authoret al.-
dc.identifier.citationHuman Molecular Genetics, 2015; 24(25):7171-7181-
dc.descriptionFirst published online: October 6, 2015-
dc.description.abstractNext generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disability (ID). For many CNVs, and copy number gains in particular, the responsible dosage-sensitive gene(s) have been hard to identify. We have collected 18 different interstitial microduplications and 1 microtriplication of Xq25. There were 15 affected individuals from 6 different families and 13 singleton cases, 28 affected males in total. The critical overlapping region involved the STAG2 gene, which codes for a subunit of the cohesin complex that regulates cohesion of sister chromatids and gene transcription. We demonstrate that STAG2 is the dosage-sensitive gene within these CNVs, as gains of STAG2 mRNA and protein dysregulate disease-relevant neuronal gene networks in cells derived from affected individuals. We also show that STAG2 gains result in increased expression of OPHN1, a known X-chromosome ID gene. Overall, we define a novel cohesinopathy due to copy number gain of Xq25 and STAG2 in particular.-
dc.description.statementofresponsibilityRaman Kumar ... Mark A. Corbett ...Alison Gardner, Joshua A.Woenig, Lachlan A. Jolly ... Chuan Tan ... Elizabeth M. Thompson, Eric Haan... Jozef Gecz et al.-
dc.publisherOxford University Press-
dc.rights© The Author 2015. Published by Oxford University Press. All rights reserved.-
dc.subjectChromosomes, Human, X-
dc.subjectCell Cycle Proteins-
dc.subjectAntigens, Nuclear-
dc.subjectReverse Transcriptase Polymerase Chain Reaction-
dc.subjectDNA Copy Number Variations-
dc.subjectIntellectual Disability-
dc.subjectProblem Behavior-
dc.titleIncreased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems-
dc.typeJournal article-
dc.identifier.orcidKumar, R. [0000-0001-7976-8386]-
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]-
dc.identifier.orcidJolly, L. [0000-0003-4538-2658]-
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest 7
Paediatrics publications

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