{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T16:56:23Z","timestamp":1792428983436,"version":"4.5.0"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2019,7,23]],"date-time":"2019-07-23T00:00:00Z","timestamp":1563840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"National Human Genome Research Institute Intramural Research Program"},{"DOI":"10.13039\/501100004622","name":"Dutch Cancer Society","doi-asserted-by":"publisher","award":["KWF"],"award-info":[{"award-number":["KWF"]}],"id":[{"id":"10.13039\/501100004622","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004622","name":"Dutch Cancer Society","doi-asserted-by":"publisher","award":["EMCR 2015\u20137857"],"award-info":[{"award-number":["EMCR 2015\u20137857"]}],"id":[{"id":"10.13039\/501100004622","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Netherlands Organisation of Scientific Research"},{"DOI":"10.13039\/501100003246","name":"NWO","doi-asserted-by":"publisher","award":["737.016.014"],"award-info":[{"award-number":["737.016.014"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000066","name":"National Institute of Environmental Health Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000066","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01ES026819"],"award-info":[{"award-number":["R01ES026819"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32ES007015"],"award-info":[{"award-number":["T32ES007015"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80\u201390% of aneuploidy-negative holoprosencephaly individuals with a probable genetic aetiology do not have a genetic diagnosis. Here we report holoprosencephaly associated with variants in the two X-linked cohesin complex genes, STAG2 and SMC1A, with loss-of-function variants in 10 individuals and a missense variant in one. Additionally, we report four individuals with variants in the cohesin complex genes that are not X-linked, SMC3 and RAD21. Using whole mount in situ hybridization, we show that STAG2 and SMC1A are expressed in the prosencephalic neural folds during primary neurulation in the mouse, consistent with forebrain morphogenesis and holoprosencephaly pathogenesis. Finally, we found that shRNA knockdown of STAG2 and SMC1A causes aberrant expression of HPE-associated genes ZIC2, GLI2, SMAD3 and FGFR1 in human neural stem cells. These findings show the cohesin complex as an important regulator of median forebrain development and X-linked inheritance patterns in holoprosencephaly.<\/jats:p>","DOI":"10.1093\/brain\/awz210","type":"journal-article","created":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T15:12:13Z","timestamp":1561561933000},"page":"2631-2643","source":"Crossref","is-referenced-by-count":70,"title":["Cohesin complex-associated holoprosencephaly"],"prefix":"10.1093","volume":"142","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4949-0875","authenticated-orcid":false,"given":"Paul","family":"Kruszka","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth I","family":"Berger","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Casa","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike R","family":"Dekker","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna","family":"Gaesser","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Neurology, University of Pittsburgh, Pittsburgh, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Weiss","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel F","family":"Martinez","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R","family":"Murdock","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond J","family":"Louie","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloise J","family":"Prijoles","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angie W","family":"Lichty","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oebele F","family":"Brouwer","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelien","family":"Zonneveld-Huijssoon","sequence":"first","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J","family":"Stephan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Washington, Seattle, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Hogue","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Madigan Army Hospital, Tacoma, WA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Hu","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Momoko","family":"Tanima-Nagai","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L","family":"Everson","sequence":"first","affiliation":[{"name":"Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA"},{"name":"Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Prasad","sequence":"first","affiliation":[{"name":"Children\u2019s Health Research Institute, London, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Cereda","sequence":"first","affiliation":[{"name":"Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Iascone","sequence":"first","affiliation":[{"name":"Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Schreiber","sequence":"first","affiliation":[{"name":"Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vickie","family":"Zurcher","sequence":"first","affiliation":[{"name":"Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Corsten-Janssen","sequence":"first","affiliation":[{"name":"Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Escobar","sequence":"first","affiliation":[{"name":"Peyton Manning Children\u2019s Hospital at St. Vincent, Medical Genetics and Neurodevelopment Center, Indianapolis, IN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy J","family":"Clegg","sequence":"first","affiliation":[{"name":"Texas Scottish Rite Hospital for Children, Dallas, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio R","family":"Delgado","sequence":"first","affiliation":[{"name":"Texas Scottish Rite Hospital for Children, Dallas, TX, USA"},{"name":"Department of Neurology and Neurotherapeutics UT Southwestern Medical Center Dallas, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omkar","family":"Hajirnis","sequence":"first","affiliation":[{"name":"Pediatric Neurology, Synapses Child Neurology and Development Centre, Thane, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Balasubramanian","sequence":"first","affiliation":[{"name":"Sheffield Clinical Genetics Service, Sheffield Children\u2019s, NHS Foundation Trust, Sheffield, UK"},{"name":"Academic Unit of Child Health, University of Sheffield, Sheffield, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"first","affiliation":[{"name":"Medical Genetics, Medical Faculty, Ko\u00e7 University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Deardorff","sequence":"first","affiliation":[{"name":"The Division of Genetics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond A","family":"Poot","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin S","family":"Wendt","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J","family":"Lipinski","sequence":"first","affiliation":[{"name":"Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA"},{"name":"Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Muenke","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,7,23]]},"reference":[{"key":"2020052311094425600_awz210-B1","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1136\/jmedgenet-2014-102573","article-title":"Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism","volume":"51","author":"Ansari","year":"2014","journal-title":"J Med 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