{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:05:41Z","timestamp":1792166741665,"version":"4.4.0"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"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":[[2015,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mowat\u2013Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E\u2010box\u2010binding homeobox2 gene (<jats:italic>ZEB2<\/jats:italic>) cause MWS. <jats:italic>ZEB2<\/jats:italic> encodes for Smad\u2010interacting protein 1, a transcriptional co\u2010repressor involved in TGF\u2010beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris\/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris\/chorioretinal\/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, <jats:italic>ZEB2<\/jats:italic> is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36898","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:57:19Z","timestamp":1429675039000},"page":"1587-1592","source":"Crossref","is-referenced-by-count":14,"title":["Clinical spectrum of eye malformations in four patients with Mowat\u2013Wilson syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"A.","family":"Bourchany","sequence":"first","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie 1, H\u00f4pital d'Enfants CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Giurgea","sequence":"additional","affiliation":[{"name":"Service de Biochimie G\u00e9n\u00e9tique, AP\u2010HP, Universit\u00e9 Paris\u2010Est H\u00f4pital Henri Mondor Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs FHU TRANSLAD H\u00f4pital d'Enfants CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique Clinique, H\u00f4pital Charles Nicolle Universit\u00e9 de Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Morin","sequence":"additional","affiliation":[{"name":"Centre d'activit\u00e9 de g\u00e9n\u00e9tique clinique et oncog\u00e9n\u00e9tique, H\u00f4pital Sud Universit\u00e9 de Picardie Jules Verne Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Bremond\u2010Gignac","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie, centre Saint\u2010Victor, CHU d'Amiens Universit\u00e9 de Picardie Jules\u2010Verne Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Paillot","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. 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El","family":"Chehadeh","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs FHU TRANSLAD H\u00f4pital d'Enfants CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Huet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie 1, H\u00f4pital d'Enfants CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bron","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Creuzot\u2010Garcher","sequence":"additional","affiliation":[{"name":"Service d'Ophtalmologie CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lyonnet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Necker\u2010Enfants Malades Universit\u00e9 Ren\u00e9\u2010Descartes Paris 5 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Faivre","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs FHU TRANSLAD H\u00f4pital d'Enfants CHU Dijon et Universit\u00e9 de Bourgogne Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2011.610860"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2003.10.004"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20452"},{"key":"e_1_2_5_5_1","first-page":"187","article-title":"Expression of the SMADIP1 gene during early human development","volume":"114","author":"Espinosa\u2010Parrilla Y","year":"2002","journal-title":"MechDev"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-42"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32693"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30312"},{"key":"e_1_2_5_9_1","first-page":"61","article-title":"A new finding in a patient with Mowat\u2013Wilson syndrome: Peripupillary atrophy and gingival hypertrophy","volume":"24","author":"Kiraz A","year":"2013","journal-title":"Genet Couns"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30896"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000013"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.601"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.003"}],"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.36898","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36898","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:50:10Z","timestamp":1696607410000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1002\/ajmg.a.36898"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36898","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}