{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T07:39:43Z","timestamp":1792136383471,"version":"4.4.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T00:00:00Z","timestamp":1424822400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"H. Van Itterbeek"},{"name":"Eddy Merckx"},{"name":"FU Leuven","award":["GOA\/12\/015"],"award-info":[{"award-number":["GOA\/12\/015"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>MEIS2<\/jats:italic> has been associated with cleft palate and cardiac septal defects as well as varying degrees of intellectual disability. We present a female patient with a more severe phenotype compared to previous reported patients. She has multiple congenital malformations; cleft palate and congenital heart defect characterized by septal defects and aortic coarctation. She has severe feeding problems, facial dysmorphism, severely delayed gross motor and verbal development, and autism spectrum disorder. Facial dysmorphism consisting of bitemporal narrowing, arched and laterally extended eyebrows, mild upslanting palpebral fissures, deep\u2010set eyes, a tented upper lip, thin upper vermilion, full lower vermilion, broad first ray of hands and feet, a gap between the first and second toes, and syndactyly of toe II\u2013III. Exome sequencing revealed a non\u2010frameshift deletion (c.998_1000del:p.Arg333del) of three base pairs in the <jats:italic>MEIS2<\/jats:italic> homeodomain. The more severe phenotype is most probably due to dominant\u2010negative mechanisms. This is the first report showing a de novo small intragenic mutation in <jats:italic>MEIS2<\/jats:italic> and further confirms the important role of this gene in normal development. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36989","type":"journal-article","created":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T11:35:48Z","timestamp":1424864148000},"page":"1142-1146","source":"Crossref","is-referenced-by-count":60,"title":["<i>MEIS2<\/i> involvement in cardiac development, cleft palate, and intellectual disability"],"prefix":"10.1002","volume":"167","author":[{"given":"Jacoba J.","family":"Louw","sequence":"first","affiliation":[{"name":"Department of Congenital and Pediatric Cardiology University Hospitals Leuven Belgium"},{"name":"Center of Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anniek","family":"Corveleyn","sequence":"additional","affiliation":[{"name":"Center of Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaojuan","family":"Jia","sequence":"additional","affiliation":[{"name":"Center of Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greet","family":"Hens","sequence":"additional","affiliation":[{"name":"Department of Ear, Nose and Throat University Hospitals Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Gewillig","sequence":"additional","affiliation":[{"name":"Department of Congenital and Pediatric Cardiology University Hospitals Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Center of Human Genetics University Hospitals Leuven Katholieke Universiteit Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.037770"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.02.011"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33375"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31541"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1084952102001040"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36498"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2007.05.022"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.08.027"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01429-06"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2008.01.100"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.21.4139"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00299-4"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36989","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:53:42Z","timestamp":1696596822000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,25]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1002\/ajmg.a.36989"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36989","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,25]]}}}