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Recently, germline mutations in the\n                    <jats:italic>SUZ12<\/jats:italic>\n                    ,\n                    <jats:italic>EZH2<\/jats:italic>\n                    and\n                    <jats:italic>EED<\/jats:italic>\n                    genes have been reported in Weaver syndrome (WS) or Weaver\u2010like syndrome, suggesting a functional link between PRC2 deficits and WS. However, only one case of a\n                    <jats:italic>SUZ12<\/jats:italic>\n                    mutation presenting with Weaver\u2010like syndrome has been reported. Here, we report a missense and a frameshift mutation in\n                    <jats:italic>SUZ12<\/jats:italic>\n                    (c.1797A&gt;C; p.Gln599His and c.844_845del; p.Ala282Glnfs*7), both of which are novel, in two individuals. Their clinical features included postnatal overgrowth, increased bifrontal diameter, large ears, round face, horizontal chin crease and skeletal anomalies, but did not fulfill the WS diagnostic criteria. These data provide strong evidence that\n                    <jats:italic>SUZ12<\/jats:italic>\n                    mutations cause Weaver\u2010like syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.13415","type":"journal-article","created":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T17:27:16Z","timestamp":1531934836000},"page":"461-466","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Novel\n                    <i>SUZ12<\/i>\n                    mutations in Weaver\u2010like syndrome"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2466-240X","authenticated-orcid":false,"given":"Eri","family":"Imagawa","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoarda V.A.","family":"Albuquerque","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina Universidade de S\u00e3o Paulo (USP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital H\u00f4tel\u2010Dieu  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satomi","family":"Mitsuhashi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Takata","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret C.S.","family":"Boguszewski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9sar L.","family":"Boguszewski","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Endocrine Division (SEMPR) Federal University of Paran\u00e1  Curitiba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio M.","family":"Lerario","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina Universidade de S\u00e3o Paulo (USP)  S\u00e3o Paulo Brazil"},{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan  Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4316-4999","authenticated-orcid":false,"given":"Mariana A.","family":"Funari","sequence":"additional","affiliation":[{"name":"Laboratorio de Hormonios e Genetica Molecular (LIM\/42), Hospital das Clinicas da Faculdade de Medicina Universidade de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander A.L.","family":"Jorge","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina Universidade de S\u00e3o Paulo (USP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,6]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"125","article-title":"Criteria for the diagnosis of Weaver syndrome","volume":"20","author":"Khosravi M","year":"2011","journal-title":"Proc Greenwood Genet 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