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  Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Kumar, R., Corbett, M. A., Van Bon, B. W., Gardner, A., Woenig, J. A., Jolly, L. A., et al. (2015). Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics, 24(25), 7171-7181. doi:10.1093/hmg/ddv414.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-3AC7-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-3AC8-C
Genre: Journal Article

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© The Authors 2015. Published by Oxford University Press.
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 Creators:
Kumar, R., Author
Corbett, M. A., Author
Van Bon, B. W., Author
Gardner, A., Author
Woenig, J. A., Author
Jolly, L. A., Author
Douglas, E., Author
Friend, K., Author
Tan, C., Author
Van Esch, H., Author
Holvoet, M., Author
Raynaud, M., Author
Field, M., Author
Leffler, M., Author
Budny, B., Author
Wisniewska, M., Author
Badura-Stronka, M., Author
Latos-Bielenska, A., Author
Batanian, J., Author
Rosenfeld, J. A., Author
Basel-Vanagaite, L., AuthorJensen, C.1, AuthorBienek, M.1, Author              Froyen, G., AuthorUllmann, R., AuthorHu, H.1, Author              Love, M. I.2, Author              Haas, S. A.3, Author              Stankiewicz, P., AuthorCheung, S. W., AuthorBaxendale, A., AuthorNicholl, J., AuthorThompson, E. M., AuthorHaan, E., AuthorKalscheuer, V. M.4, Author              Gecz, J., Author more..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2IMPRS for Computational Biology and Scientific Computing - IMPRS-CBSC (Kirsten Kelleher), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479666              
3Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Abstract: Next 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.

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Language(s): eng - English
 Dates: 2015-10-062015-12-20
 Publication Status: Published in print
 Pages: 11
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1093/hmg/ddv414
ISSN: 1460-2083 (Electronic)0964-6906 (Print)
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Title: Human Molecular Genetics
Source Genre: Journal
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Publ. Info: Oxford, England : IRL Press
Pages: - Volume / Issue: 24 (25) Sequence Number: - Start / End Page: 7171 - 7181 Identifier: ISSN: 0964-6906
CoNE: https://pure.mpg.de/cone/journals/resource/954925581153