{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T07:52:42Z","timestamp":1791186762772,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["WI 1440\/8\u20101"],"award-info":[{"award-number":["WI 1440\/8\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["RE 4149\/1\u20101"],"award-info":[{"award-number":["RE 4149\/1\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The Embryonic Ectoderm Development (\n                      <jats:italic>EED<\/jats:italic>\n                      ) gene encodes a core component of the Polycomb Repressive Complex 2 (PRC2), which regulates chromatin structure and plays a key role in embryonic development and cell differentiation. Pathogenic variants in\n                      <jats:italic>EED<\/jats:italic>\n                      are associated with overgrowth\u2013intellectual disability syndrome (Cohen\u2013Gibson syndrome, OMIM #617561), though reported cases are rare and typically involve heterozygous germline variants. This study presents an individual with confirmed postzygotic mosaicism in\n                      <jats:italic>EED<\/jats:italic>\n                      , contributing to diagnostic complexity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A 12\u2010year\u2010old girl with tall stature, dysmorphic features, developmental delay, and congenital anomalies underwent clinical and genetic evaluation. Exome sequencing and targeted deep sequencing were used to identify and validate the genetic variant across multiple tissues.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A likely pathogenic mosaic\n                      <jats:italic>EED<\/jats:italic>\n                      variant c.1091G\u2009&gt;\u2009T; p.(Trp364Leu) was identified in the patient with a 31% variant allele fraction in peripheral blood. Deep sequencing confirmed the variant and its de novo origin in the parents' samples. Mosaicism was also detected in two independently collected buccal mucosa samples (dry swab and buccal swab collection kit; 11% and 17%) and in saliva (30%), indicating somatic mosaicism in multiple tissues. DNA methylation profiling revealed a high\u2010confidence epigenetic signature consistent with a\n                      <jats:italic>PRC2<\/jats:italic>\n                      complex\u2010associated disorder, further supporting the likely pathogenic classification of the identified variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case broadens the molecular understanding of\n                      <jats:italic>EED<\/jats:italic>\n                      \u2010related disorders and highlights the clinical significance of mosaicism. Deep sequencing and multi\u2010tissue analysis are crucial for accurate diagnosis, management, and genetic counseling in overgrowth syndromes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70286","type":"journal-article","created":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T07:10:57Z","timestamp":1791184257000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mosaicism for Cohen\u2013Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0849-150X","authenticated-orcid":false,"given":"Fei","family":"Song","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty and University Hospital D\u00fcsseldorf Heinrich\u2010Heine\u2010University D\u00fcsseldorf  D\u00fcsseldorf 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