{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T00:52:18Z","timestamp":1792716738040,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in <jats:italic>CREBBP<\/jats:italic> and <jats:italic>EP300.<\/jats:italic> RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes. Individuals with <jats:italic>EP300<\/jats:italic> variants tend to have milder disease, but overall disease features are similar. Recently, a cohort of individuals with heterozygous variants in exons 30\u201331 of <jats:italic>CREBBP<\/jats:italic> and homologous regions in <jats:italic>EP300<\/jats:italic> was described. Affected individuals presented with global developmental delay, autism, feeding difficulties, vision and hearing impairment, and microcephaly, but did not share the typical RTS facial gestalt or organ malformations, suggesting an allelic disorder. Here we present a family with mild dysmorphisms, recurrent respiratory infections, and speech delay found by exome sequencing to have a missense variant in exon 8 of <jats:italic>EP300<\/jats:italic> in the KIX CBP coactivator domain. Follow\u2010up methylation testing revealed an abnormal methylation pattern overlapping with both RTS and Cornelia de Lange syndromes. We propose that missense variants in <jats:italic>EP300<\/jats:italic> may cause a distinct neurodevelopmental syndrome with a milder phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.64050","type":"journal-article","created":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T15:02:12Z","timestamp":1743606132000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A New <scp><i>EP300<\/i><\/scp>\u2010Related Syndrome With Prominent Developmental and Immune Phenotypes"],"prefix":"10.1002","volume":"197","author":[{"given":"Devi Priyanka","family":"Maripuri","sequence":"first","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Gold","sequence":"additional","affiliation":[{"name":"Division of Genetics Cohen Children's Northwell Health  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Gold","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Medical Genetics and Metabolism Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9261-244X","authenticated-orcid":false,"given":"Alanna","family":"Strong","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-022-01424-4"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/384641a0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61883"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.11.002"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0031-0"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109438"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38626"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010015\u20100110\u20101"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62533"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)82001-2"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-95133-0"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/376348a0"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/429130"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32424"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12537"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-012-1254-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI77435"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:48:57Z","timestamp":1751525337000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/ajmg.a.64050"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64050","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"2025-01-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64050"}}