{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:30Z","timestamp":1786976850420,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T00:00:00Z","timestamp":1717027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants of polycomb repressive complex\u20102 (PRC2) subunits are associated with overgrowth syndromes and neurological diseases. EZH2 is a major component of PRC2 and mediates the methylation of H3K27 trimethylation (H3K27me3). Germline variants of\n                    <jats:italic>EZH2<\/jats:italic>\n                    have been identified as a cause of Weaver syndrome (WS), an overgrowth\/intellectual disability (OGID) syndrome characterized by overgrowth, macrocephaly, accelerated bone age, intellectual disability (ID), and characteristic facial features. Germline variants of\n                    <jats:italic>SUZ12<\/jats:italic>\n                    and\n                    <jats:italic>EED<\/jats:italic>\n                    , other components of PRC2, have also been reported in the WS or Weaver\u2010like syndrome.\n                    <jats:italic>EZH1<\/jats:italic>\n                    is a homolog of\n                    <jats:italic>EZH2<\/jats:italic>\n                    that interchangeably associates with\n                    <jats:italic>SUZ12<\/jats:italic>\n                    and\n                    <jats:italic>EED<\/jats:italic>\n                    . Recently, pathogenic variants of\n                    <jats:italic>EZH1<\/jats:italic>\n                    have been reported in individuals with dominant and recessive neurodevelopmental disorders. We herein present sisters with biallelic loss\u2010of\u2010function variants of\n                    <jats:italic>EZH1<\/jats:italic>\n                    . They showed developmental delay, ID, and central precocious puberty, but not the features of WS or other OGID syndromes.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63726","type":"journal-article","created":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T08:44:16Z","timestamp":1717058656000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Biallelic loss\u2010of\u2010function variants of\n                    <i>EZH1<\/i>\n                    cause a novel developmental disorder with central precocious puberty"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nara Prefecture General Medical Center  Nara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Ogitani","sequence":"additional","affiliation":[{"name":"Department of Neonatal Intensive Care Unit Nara Prefecture General Medical Center  Nara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Etani","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Nutrition and Endocrinology Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6961-0438","authenticated-orcid":false,"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0281-9610","authenticated-orcid":false,"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development  Tokyo 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