{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T07:39:39Z","timestamp":1792136379602,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>MEIS2 is a homeodomain\u2010containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in <jats:italic>MEIS2<\/jats:italic> can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326\u20131327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8\u2009Mb, respectively, all involving <jats:italic>MEIS2<\/jats:italic>. In addition, we present a family with four affected individuals and an intragenic 58\u2009kb direct duplication disrupting <jats:italic>MEIS2<\/jats:italic>. In total, 7\/9 cases had clefting, from mild (submucous cleft palate) to severe (cleft lip and palate), and 3\/9 cases had ventricular septal defects. All cases had delayed motor development and most had learning disability, at worst in the mild intellectual disability range. The cases had overlapping facial features (broad forehead, finely arched eyebrows, mildly shortened philtrum, and tented upper lip) but individually they were not considered to be dysmorphic. Our results show that <jats:italic>MEIS2<\/jats:italic> is a gene needed for palate closure. In syndromic cases of cleft palate, <jats:italic>MEIS2<\/jats:italic> should be considered among the candidate genes, for example, in cases without 22q11.2 deletions. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36498","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T17:24:42Z","timestamp":1395854682000},"page":"1622-1626","source":"Crossref","is-referenced-by-count":39,"title":["Haploinsufficiency of <i>MEIS2<\/i> is associated with orofacial clefting and learning disability"],"prefix":"10.1002","volume":"164","author":[{"given":"Stefan","family":"Johansson","sequence":"first","affiliation":[{"name":"Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway"},{"name":"Department of Clinical Science University of Bergen Bergen 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Centre Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Fannemel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Ullev\u00e5l Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaug","family":"R\u00f8dningen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Ullev\u00e5l Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atle","family":"Brendehaug","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen 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