{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:13:39Z","timestamp":1791224019217,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,21]],"date-time":"2016-11-21T00:00:00Z","timestamp":1479686400000},"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":[[2017,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features. Pathogenic variants in <jats:italic>EZH2<\/jats:italic>, a histone methyltransferase, have previously been identified as a cause of Weaver syndrome. However, the underlying molecular cause in many patients remains unknown. We report a patient with a clinical diagnosis of Weaver syndrome whose exome was initially non\u2010diagnostic. Reports in the medical literature of <jats:italic>EED<\/jats:italic> associated overgrowth prompted re\u2010analysis of the patient's original exome data. The patient was found to have a likely pathogenic variant in <jats:italic>EED<\/jats:italic>. These findings support that Weaver syndrome is a disorder with locus heterogeneity and can be due to pathogenic variants in either <jats:italic>EZH2<\/jats:italic> or <jats:italic>EED<\/jats:italic>. This case highlights the utility of exome sequencing as a clinical diagnostic tool for novel gene discovery as well as the importance of re\u2010examination of exome data as new information about gene\u2010disease associations becomes available. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38055","type":"journal-article","created":{"date-parts":[[2016,11,21]],"date-time":"2016-11-21T09:36:46Z","timestamp":1479721006000},"page":"541-545","source":"Crossref","is-referenced-by-count":61,"title":["Novel <i>EED<\/i> mutation in patient with Weaver syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Erin","family":"Cooney","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weimin","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan E.","family":"Schlesinger","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Houston Texas"},{"name":"Department of Pediatric Radiology Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherry","family":"Vinson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"},{"name":"The Meyer Center for Developmental Pediatrics Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33244"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.26"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.51"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.5.418"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.018"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.191163.112"},{"key":"e_1_2_6_8_1","first-page":"125","article-title":"Criteria for the Diagnosis of the Weaver syndrome","volume":"20","author":"Khosravi M","year":"2011","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30064"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2010.02.009"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<305::AID-AJMG13>3.0.CO;2-V"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5509"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.385"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36229"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80675-X"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"}],"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.38055","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T18:48:29Z","timestamp":1694717309000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,21]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1002\/ajmg.a.38055"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38055","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,21]]}}}