Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Identifieur interne : 002C52 ( Main/Exploration ); précédent : 002C51; suivant : 002C53Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Auteurs : Raman Kumar [Australie] ; Mark A. Corbett [Australie] ; Bregje W M. Van Bon [Pays-Bas] ; Alison Gardner [Australie] ; Joshua A. Woenig [Australie] ; Lachlan A. Jolly [Australie] ; Evelyn Douglas [Australie] ; Kathryn Friend [Australie] ; Chuan Tan [Australie] ; Hilde Van Esch [Belgique] ; Maureen Holvoet [Belgique] ; Martine Raynaud [France] ; Michael Field [Australie] ; Melanie Leffler [Australie] ; Bartłomiej Budny ; Marzena Wisniewska [Pologne] ; Magdalena Badura-Stronka [Pologne] ; Anna Latos-Biele Ska [Pologne] ; Jacqueline Batanian [États-Unis] ; Jill A. Rosenfeld [États-Unis] ; Lina Basel-Vanagaite [Israël] ; Corinna Jensen ; Melanie Bienek ; Guy Froyen ; Reinhard Ullmann [Allemagne] ; Hao Hu ; Michael I. Love [Allemagne] ; Stefan A. Haas [Allemagne] ; Pawel Stankiewicz [États-Unis] ; Sau Wai Cheung [États-Unis] ; Anne Baxendale [Australie] ; Jillian Nicholl [Australie] ; Elizabeth M. Thompson [Australie] ; Eric Haan [Australie] ; Vera M. Kalscheuer ; Jozef Gecz [Australie]Source :
- Human molecular genetics [ 1460-2083 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Antigens, Nuclear.
- genetics : Chromosomes, Human, X, DNA Copy Number Variations, Intellectual Disability.
- Humans, Male, Problem Behavior, Reverse Transcriptase Polymerase Chain Reaction.
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.
DOI: 10.1093/hmg/ddv414
PubMed: 26443594
Affiliations:
- Allemagne, Australie, Belgique, France, Israël, Pays-Bas, Pologne, États-Unis
- Bavière, Berlin, District de Haute-Bavière, Gueldre, Missouri (État), Province du Brabant flamand, Texas
- Berlin, Louvain, Munich, Nimègue
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Love</name><affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Haas, Stefan A" sort="Haas, Stefan A" uniqKey="Haas S" first="Stefan A" last="Haas">Stefan A. Haas</name><affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Cheung, Sau Wai" sort="Cheung, Sau Wai" uniqKey="Cheung S" first="Sau Wai" last="Cheung">Sau Wai Cheung</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Baxendale, Anne" sort="Baxendale, Anne" uniqKey="Baxendale A" first="Anne" last="Baxendale">Anne Baxendale</name><affiliation wicri:level="1"><nlm:affiliation>South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><affiliation wicri:level="1"><nlm:affiliation>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Thompson, Elizabeth M" sort="Thompson, Elizabeth M" uniqKey="Thompson E" first="Elizabeth M" last="Thompson">Elizabeth M. Thompson</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. 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Corbett</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Radboud University Medical Center, 6525 GA, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gardner, Alison" sort="Gardner, Alison" uniqKey="Gardner A" first="Alison" last="Gardner">Alison Gardner</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Woenig, Joshua A" sort="Woenig, Joshua A" uniqKey="Woenig J" first="Joshua A" last="Woenig">Joshua A. Woenig</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Jolly, Lachlan A" sort="Jolly, Lachlan A" uniqKey="Jolly L" first="Lachlan A" last="Jolly">Lachlan A. Jolly</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><affiliation wicri:level="1"><nlm:affiliation>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name><affiliation wicri:level="1"><nlm:affiliation>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Tan, Chuan" sort="Tan, Chuan" uniqKey="Tan C" first="Chuan" last="Tan">Chuan Tan</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="3"><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, 3000 Leuven</wicri:regionArea><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Holvoet, Maureen" sort="Holvoet, Maureen" uniqKey="Holvoet M" first="Maureen" last="Holvoet">Maureen Holvoet</name><affiliation wicri:level="3"><nlm:affiliation>Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, 3000 Leuven</wicri:regionArea><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation wicri:level="1"><nlm:affiliation>Centre Hospitalier Régional Universitaire, Service de Génétique, 37000 Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre Hospitalier Régional Universitaire, Service de Génétique, 37000 Tours</wicri:regionArea><wicri:noRegion>37000 Tours</wicri:noRegion><wicri:noRegion>37000 Tours</wicri:noRegion></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298</wicri:regionArea><wicri:noRegion>NSW 2298</wicri:noRegion></affiliation></author><author><name sortKey="Leffler, Melanie" sort="Leffler, Melanie" uniqKey="Leffler M" first="Melanie" last="Leffler">Melanie Leffler</name><affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298</wicri:regionArea><wicri:noRegion>NSW 2298</wicri:noRegion></affiliation></author><author><name sortKey="Budny, Bartlomiej" sort="Budny, Bartlomiej" uniqKey="Budny B" first="Bartłomiej" last="Budny">Bartłomiej Budny</name><affiliation><nlm:affiliation>Department of Endocrinology, Metabolism and Internal Diseases and.</nlm:affiliation><wicri:noCountry code="subField">Metabolism and Internal Diseases and</wicri:noCountry></affiliation></author><author><name sortKey="Wisniewska, Marzena" sort="Wisniewska, Marzena" uniqKey="Wisniewska M" first="Marzena" last="Wisniewska">Marzena Wisniewska</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355</wicri:regionArea><wicri:noRegion>Poznan 60-355</wicri:noRegion></affiliation></author><author><name sortKey="Badura Stronka, Magdalena" sort="Badura Stronka, Magdalena" uniqKey="Badura Stronka M" first="Magdalena" last="Badura-Stronka">Magdalena Badura-Stronka</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355</wicri:regionArea><wicri:noRegion>Poznan 60-355</wicri:noRegion></affiliation></author><author><name sortKey="Latos Biele Ska, Anna" sort="Latos Biele Ska, Anna" uniqKey="Latos Biele Ska A" first="Anna" last="Latos-Biele Ska">Anna Latos-Biele Ska</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355</wicri:regionArea><wicri:noRegion>Poznan 60-355</wicri:noRegion></affiliation></author><author><name sortKey="Batanian, Jacqueline" sort="Batanian, Jacqueline" uniqKey="Batanian J" first="Jacqueline" last="Batanian">Jacqueline Batanian</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Saint Louis University, St Louis, MO 63104, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Saint Louis University, St Louis, MO 63104</wicri:regionArea><placeName><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name><affiliation wicri:level="2"><nlm:affiliation>Signature Genomic Laboratories, Spokane, WA 99207, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, WA 99207, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Basel Vanagaite, Lina" sort="Basel Vanagaite, Lina" uniqKey="Basel Vanagaite L" first="Lina" last="Basel-Vanagaite">Lina Basel-Vanagaite</name><affiliation wicri:level="1"><nlm:affiliation>Raphael Recanati Genetic Institute and Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Raphael Recanati Genetic Institute and Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100</wicri:regionArea><wicri:noRegion>Petah Tikva 49100</wicri:noRegion></affiliation></author><author><name sortKey="Jensen, Corinna" sort="Jensen, Corinna" uniqKey="Jensen C" first="Corinna" last="Jensen">Corinna Jensen</name><affiliation><nlm:affiliation>Department of Human Molecular Genetics and.</nlm:affiliation><wicri:noCountry code="no comma">Department of Human Molecular Genetics and.</wicri:noCountry></affiliation></author><author><name sortKey="Bienek, Melanie" sort="Bienek, Melanie" uniqKey="Bienek M" first="Melanie" last="Bienek">Melanie Bienek</name><affiliation><nlm:affiliation>Department of Human Molecular Genetics and.</nlm:affiliation><wicri:noCountry code="no comma">Department of Human Molecular Genetics and.</wicri:noCountry></affiliation></author><author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><affiliation><nlm:affiliation>Human Genome Laboratory, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium and.</nlm:affiliation><wicri:noCountry code="subField">Belgium and</wicri:noCountry></affiliation></author><author><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Molecular Genetics and, Bundeswehr Institute of Radiobiology, 80937 Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Molecular Genetics and, Bundeswehr Institute of Radiobiology, 80937 Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name><affiliation><nlm:affiliation>Department of Human Molecular Genetics and.</nlm:affiliation><wicri:noCountry code="no comma">Department of Human Molecular Genetics and.</wicri:noCountry></affiliation></author><author><name sortKey="Love, Michael I" sort="Love, Michael I" uniqKey="Love M" first="Michael I" last="Love">Michael I. Love</name><affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Haas, Stefan A" sort="Haas, Stefan A" uniqKey="Haas S" first="Stefan A" last="Haas">Stefan A. Haas</name><affiliation wicri:level="3"><nlm:affiliation>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin</wicri:regionArea><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Cheung, Sau Wai" sort="Cheung, Sau Wai" uniqKey="Cheung S" first="Sau Wai" last="Cheung">Sau Wai Cheung</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Baxendale, Anne" sort="Baxendale, Anne" uniqKey="Baxendale A" first="Anne" last="Baxendale">Anne Baxendale</name><affiliation wicri:level="1"><nlm:affiliation>South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><affiliation wicri:level="1"><nlm:affiliation>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Thompson, Elizabeth M" sort="Thompson, Elizabeth M" uniqKey="Thompson E" first="Elizabeth M" last="Thompson">Elizabeth M. Thompson</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name><affiliation><nlm:affiliation>Department of Human Molecular Genetics and.</nlm:affiliation><wicri:noCountry code="no comma">Department of Human Molecular Genetics and.</wicri:noCountry></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, jozef.gecz@adelaide.edu.au.</nlm:affiliation><country wicri:rule="url">Australie</country><wicri:regionArea>School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia</wicri:regionArea><wicri:noRegion>Australia</wicri:noRegion></affiliation></author></analytic><series><title level="j">Human molecular genetics</title><idno type="eISSN">1460-2083</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antigens, Nuclear (genetics)</term><term>Chromosomes, Human, X (genetics)</term><term>DNA Copy Number Variations (genetics)</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Male</term><term>Problem Behavior</term><term>Reverse Transcriptase Polymerase Chain Reaction</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Antigènes nucléaires (génétique)</term><term>Chromosomes X humains (génétique)</term><term>Comportement déviant</term><term>Déficience intellectuelle (génétique)</term><term>Humains</term><term>Mâle</term><term>RT-PCR</term><term>Variations de nombre de copies de segment d'ADN (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Antigens, Nuclear</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, X</term><term>DNA Copy Number Variations</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes nucléaires</term><term>Chromosomes X humains</term><term>Déficience intellectuelle</term><term>Variations de nombre de copies de segment d'ADN</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Problem Behavior</term><term>Reverse Transcriptase Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Comportement déviant</term><term>Humains</term><term>Mâle</term><term>RT-PCR</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Israël</li><li>Pays-Bas</li><li>Pologne</li><li>États-Unis</li></country><region><li>Bavière</li><li>Berlin</li><li>District de Haute-Bavière</li><li>Gueldre</li><li>Missouri (État)</li><li>Province du Brabant flamand</li><li>Texas</li></region><settlement><li>Berlin</li><li>Louvain</li><li>Munich</li><li>Nimègue</li></settlement></list><tree><noCountry><name sortKey="Bienek, Melanie" sort="Bienek, Melanie" uniqKey="Bienek M" first="Melanie" last="Bienek">Melanie Bienek</name><name sortKey="Budny, Bartlomiej" sort="Budny, Bartlomiej" uniqKey="Budny B" first="Bartłomiej" last="Budny">Bartłomiej Budny</name><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><name sortKey="Hu, Hao" sort="Hu, Hao" uniqKey="Hu H" first="Hao" last="Hu">Hao Hu</name><name sortKey="Jensen, Corinna" sort="Jensen, Corinna" uniqKey="Jensen C" first="Corinna" last="Jensen">Corinna Jensen</name><name sortKey="Kalscheuer, Vera M" sort="Kalscheuer, Vera M" uniqKey="Kalscheuer V" first="Vera M" last="Kalscheuer">Vera M. Kalscheuer</name></noCountry><country name="Australie"><noRegion><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name></noRegion><name sortKey="Baxendale, Anne" sort="Baxendale, Anne" uniqKey="Baxendale A" first="Anne" last="Baxendale">Anne Baxendale</name><name sortKey="Corbett, Mark A" sort="Corbett, Mark A" uniqKey="Corbett M" first="Mark A" last="Corbett">Mark A. Corbett</name><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><name sortKey="Friend, Kathryn" sort="Friend, Kathryn" uniqKey="Friend K" first="Kathryn" last="Friend">Kathryn Friend</name><name sortKey="Gardner, Alison" sort="Gardner, Alison" uniqKey="Gardner A" first="Alison" last="Gardner">Alison Gardner</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><name sortKey="Jolly, Lachlan A" sort="Jolly, Lachlan A" uniqKey="Jolly L" first="Lachlan A" last="Jolly">Lachlan A. Jolly</name><name sortKey="Leffler, Melanie" sort="Leffler, Melanie" uniqKey="Leffler M" first="Melanie" last="Leffler">Melanie Leffler</name><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><name sortKey="Tan, Chuan" sort="Tan, Chuan" uniqKey="Tan C" first="Chuan" last="Tan">Chuan Tan</name><name sortKey="Thompson, Elizabeth M" sort="Thompson, Elizabeth M" uniqKey="Thompson E" first="Elizabeth M" last="Thompson">Elizabeth M. Thompson</name><name sortKey="Woenig, Joshua A" sort="Woenig, Joshua A" uniqKey="Woenig J" first="Joshua A" last="Woenig">Joshua A. Woenig</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name></region></country><country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></region><name sortKey="Holvoet, Maureen" sort="Holvoet, Maureen" uniqKey="Holvoet M" first="Maureen" last="Holvoet">Maureen Holvoet</name></country><country name="France"><noRegion><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name></noRegion></country><country name="Pologne"><noRegion><name sortKey="Wisniewska, Marzena" sort="Wisniewska, Marzena" uniqKey="Wisniewska M" first="Marzena" last="Wisniewska">Marzena Wisniewska</name></noRegion><name sortKey="Badura Stronka, Magdalena" sort="Badura Stronka, Magdalena" uniqKey="Badura Stronka M" first="Magdalena" last="Badura-Stronka">Magdalena Badura-Stronka</name><name sortKey="Latos Biele Ska, Anna" sort="Latos Biele Ska, Anna" uniqKey="Latos Biele Ska A" first="Anna" last="Latos-Biele Ska">Anna Latos-Biele Ska</name></country><country name="États-Unis"><region name="Missouri (État)"><name sortKey="Batanian, Jacqueline" sort="Batanian, Jacqueline" uniqKey="Batanian J" first="Jacqueline" last="Batanian">Jacqueline Batanian</name></region><name sortKey="Cheung, Sau Wai" sort="Cheung, Sau Wai" uniqKey="Cheung S" first="Sau Wai" last="Cheung">Sau Wai Cheung</name><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name></country><country name="Israël"><noRegion><name sortKey="Basel Vanagaite, Lina" sort="Basel Vanagaite, Lina" uniqKey="Basel Vanagaite L" first="Lina" last="Basel-Vanagaite">Lina Basel-Vanagaite</name></noRegion></country><country name="Allemagne"><region name="Bavière"><name sortKey="Ullmann, Reinhard" sort="Ullmann, Reinhard" uniqKey="Ullmann R" first="Reinhard" last="Ullmann">Reinhard Ullmann</name></region><name sortKey="Haas, Stefan A" sort="Haas, Stefan A" uniqKey="Haas S" first="Stefan A" last="Haas">Stefan A. Haas</name><name sortKey="Love, Michael I" sort="Love, Michael I" uniqKey="Love M" first="Michael I" last="Love">Michael I. Love</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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