{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T08:45:59Z","timestamp":1783068359451,"version":"3.54.6"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T00:00:00Z","timestamp":1452729600000},"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":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Weaver syndrome is an overgrowth syndrome characterized by pre\u2010 and postnatal overgrowth with distinctive craniofacial appearance. Mutations in the <jats:italic>enhancer of zeste homolog 2<\/jats:italic> (<jats:italic>EZH2<\/jats:italic>) gene were found to cause Weaver syndrome, and have been associated with hematologic malignancies, including acute myeloid leukemia (AML). We present the first report of a patient with Weaver syndrome, who developed AML and harbored an <jats:italic>EZH2<\/jats:italic> mutation. The clinical course of the 16\u2010year\u2010old female adolescent patient was complicated by a secondary hemophagocytic lymphohistiocytosis. Genomic DNA was isolated from bone marrow cells at AML diagnosis. Polymerase chain reactions were performed with primers covering all exons of the <jats:italic>EZH2<\/jats:italic> gene. We found a novel heterozygous <jats:italic>EZH2<\/jats:italic> mutation within exon 5 that caused an amino acid change from proline to leucine at position 132 (p.Pro132Leu) within the catalytic D1 domain. Analysis of a remission sample also showed this mutation, indicating a germline mutation. It remains to be elucidated whether <jats:italic>EZH2<\/jats:italic> mutations contribute to disease severity in specific AML cases. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37562","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T17:26:07Z","timestamp":1452792367000},"page":"1274-1277","source":"Crossref","is-referenced-by-count":27,"title":["<i>EZH2<\/i> mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis"],"prefix":"10.1002","volume":"170","author":[{"given":"Jakob","family":"Usemann","sequence":"first","affiliation":[{"name":"Department of Pediatric Oncology and Hematology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin Berlin Germany"},{"name":"University Children's Hospital (UKBB) Basel Basel 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