{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:34:08Z","timestamp":1780464848803,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T00:00:00Z","timestamp":1708473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG471"],"award-info":[{"award-number":["PRG471"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Precise regulation of gene expression is important for correct neurodevelopment. 9q34.3 deletions affecting the\n                    <jats:italic>EHMT1<\/jats:italic>\n                    gene result in a syndromic neurodevelopmental disorder named Kleefstra syndrome. In contrast, duplications of the 9q34.3 locus encompassing\n                    <jats:italic>EHMT1<\/jats:italic>\n                    have been suggested to cause developmental disorders, but only limited information has been available. We have identified 15 individuals from 10 unrelated families, with 9q34.3 duplications &lt;1.5\u2009Mb in size, encompassing\n                    <jats:italic>EHMT1<\/jats:italic>\n                    entirely. Clinical features included mild developmental delay, mild intellectual disability or learning problems, autism spectrum disorder, and behavior problems. The individuals did not consistently display dysmorphic features, congenital anomalies, or growth abnormalities. DNA methylation analysis revealed a weak DNAm profile for the cases with 9q34.3 duplication encompassing\n                    <jats:italic>EHMT1<\/jats:italic>\n                    , which could segregate the majority of the affected cases from controls. This study shows that individuals with 9q34.3 duplications including\n                    <jats:italic>EHMT1<\/jats:italic>\n                    gene present with mild non\u2010syndromic neurodevelopmental disorders and DNA methylation changes different from Kleefstra syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14498","type":"journal-article","created":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T01:57:55Z","timestamp":1708567075000},"page":"655-660","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global\n                    <scp>DNA<\/scp>\n                    methylation profile"],"prefix":"10.1111","volume":"105","author":[{"given":"Dmitrijs","family":"Rots","sequence":"first","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboudumc Donders Center for Medical Neuroscience  Nijmegen The Netherlands"},{"name":"Department of Clinical Genetics Erasmus MC  Rotterdam The Netherlands"},{"name":"Genetics Laboratory Children's Clinical University Hospital  Riga Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Rooney","sequence":"additional","affiliation":[{"name":"Verspeeten Clinical Genome Centre London Health Sciences Centre  London Ontario Canada"},{"name":"Department of Pathology and Laboratory Medicine Western University  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raissa","family":"Relator","sequence":"additional","affiliation":[{"name":"Verspeeten Clinical Genome Centre London Health Sciences Centre  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Kerkhof","sequence":"additional","affiliation":[{"name":"Verspeeten Clinical Genome Centre London Health Sciences Centre  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haley","family":"McConkey","sequence":"additional","affiliation":[{"name":"Verspeeten Clinical Genome Centre London Health Sciences Centre  London Ontario Canada"},{"name":"Department of Pathology and Laboratory Medicine Western University  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein H.","family":"Willemsen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M.","family":"van Hagen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam UMC Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Zwijnenburg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam UMC Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielle","family":"Alders","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam Reproduction &amp; development Research Institute, Amsterdam University Medical Centers University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4594-6364","authenticated-orcid":false,"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiia","family":"Reimand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Fjodorova","sequence":"additional","affiliation":[{"name":"Department of Laboratory Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siren","family":"Berland","sequence":"additional","affiliation":[{"name":"Department of Mental Health M\u00f8re og Romsdal Hospital Trust  \u00c5lesund Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva Benedicte","family":"Liahjell","sequence":"additional","affiliation":[{"name":"Department of Mental Health M\u00f8re og Romsdal Hospital Trust  \u00c5lesund Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ognjen","family":"Bojovic","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Haukeland University Hospital  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein","family":"Kriek","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ruivenkamp","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bonati","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Maternal and Child Health IRCCS Burlo Garofolo  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han G.","family":"Brunner","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"},{"name":"Department of Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisenka E. L. M.","family":"Vissers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboudumc Donders Center for Medical Neuroscience  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[{"name":"Verspeeten Clinical Genome Centre London Health Sciences Centre  London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboudumc  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboudumc Donders Center for Medical Neuroscience  Nijmegen The Netherlands"},{"name":"Department of Clinical Genetics Erasmus MC  Rotterdam The 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