{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:15Z","timestamp":1791296835480,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,2,5]],"date-time":"2010-02-05T00:00:00Z","timestamp":1265328000000},"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":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>FOXE3<\/jats:italic> forkhead transcription factor is essential to lens development in vertebrates. The eyes of <jats:italic>Foxe3\/foxe3<\/jats:italic>\u2010deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in <jats:italic>FOXE3<\/jats:italic> have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia. We undertook sequencing of <jats:italic>FOXE3<\/jats:italic> in 116 probands with a spectrum of ocular defects ranging from anterior segment dysgenesis and cataract to anophthalmia\/microphthalmia. Recessive mutations in <jats:italic>FOXE3<\/jats:italic> were found in four of 26 probands affected with bilateral microphthalmia (15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype). <jats:italic>FOXE3<\/jats:italic>\u2010positive microphthalmia was accompanied by aphakia and\/or corneal defects; no other associated systemic anomalies were observed in <jats:italic>FOXE3<\/jats:italic>\u2010positive families. The previously reported c.720C\u2009&gt;\u2009A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. Several missense variants were identified at varying frequencies in patient and control groups with some apparently being race\u2010specific, which underscores the importance of utilizing race\/ethnicity\u2010matched control populations in evaluating the relevance of genetic screening results. In conclusion, <jats:italic>FOXE3<\/jats:italic> mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33257","type":"journal-article","created":{"date-parts":[[2010,2,5]],"date-time":"2010-02-05T22:49:08Z","timestamp":1265410148000},"page":"582-590","source":"Crossref","is-referenced-by-count":51,"title":["<i>FOXE3<\/i> plays a significant role in autosomal recessive microphthalmia"],"prefix":"10.1002","volume":"152A","author":[{"given":"Linda M.","family":"Reis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca C.","family":"Tyler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Bardakjian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan M.","family":"Stoler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge B.","family":"Melancon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena V.","family":"Semina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,2,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1154-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.83.8.919"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.2.245"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1526-968X(200006)27:2<81::AID-GENE50>3.0.CO;2-N"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31114"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00846.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/78071"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21079"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01078.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.16"},{"key":"e_1_2_7_12_1","first-page":"1350","article-title":"Foxe3 haploinsufficiency in mice: A model for peters' anomaly","volume":"43","author":"Ormestad M","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/430721"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32498"},{"key":"e_1_2_7_15_1","first-page":"642","article-title":"Dysgenetic lens (dyl)\u2014A new gene in the mouse","volume":"18","author":"Sanyal S","year":"1979","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32384"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.231"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2006.07.004"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/505654"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh025"}],"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.33257","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:23:23Z","timestamp":1697055803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,5]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1002\/ajmg.a.33257"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33257","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,5]]}}}