{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T04:16:46Z","timestamp":1773289006001,"version":"3.50.1"},"reference-count":37,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.ejmg.2017.11.002","type":"journal-article","created":{"date-parts":[[2017,11,10]],"date-time":"2017-11-10T16:01:04Z","timestamp":1510329664000},"page":"125-129","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genome-wide sequencing expands the phenotypic spectrum of EP300 variants"],"prefix":"10.1016","volume":"61","author":[{"given":"Gregory","family":"Costain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Kannu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Bowdin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2017.11.002_bib1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1136\/jmg.2006.046698","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300","volume":"44","author":"Bartholdi","year":"2007","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib2","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajmg.a.33153","article-title":"Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome","volume":"152A","author":"Bartsch","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib3","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1752-1947-9-10","article-title":"Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report","volume":"9","author":"Bounakis","year":"2015","journal-title":"J. Med. Case Rep."},{"key":"10.1016\/j.ejmg.2017.11.002_bib4","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1111\/j.1365-2788.2011.01510.x","article-title":"Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome","volume":"56","author":"Costain","year":"2012","journal-title":"J. Intellect. Disabil. Res."},{"key":"10.1016\/j.ejmg.2017.11.002_bib5","doi-asserted-by":"crossref","first-page":"6714","DOI":"10.1074\/jbc.R115.692020","article-title":"Role of intrinsic protein disorder in the function and interactions of the transcriptional coactivators CREB-binding protein (CBP) and p300","volume":"291","author":"Dyson","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2017.11.002_bib6","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1002\/ajmg.a.37940","article-title":"Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations","volume":"170","author":"Fergelot","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib7","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1002\/ajmg.a.32771","article-title":"Further case of Rubinstein-Taybi syndrome due to a deletion in EP300","volume":"149A","author":"Foley","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib8","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1136\/jmedgenet-2016-104432","article-title":"De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy","volume":"54","author":"Guey","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib9","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1097\/MCD.0000000000000143","article-title":"Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum","volume":"25","author":"Hamilton","year":"2016","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2017.11.002_bib10","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1038\/sj.ejhg.5201594","article-title":"Rubinstein-Taybi syndrome","volume":"14","author":"Hennekam","year":"2006","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib11","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1002\/ajmg.a.38279","article-title":"Phenotypes and genotypes in individuals with SMC1A variants","volume":"173","author":"Huisman","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib12","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1097\/MCD.0000000000000164","article-title":"Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings","volume":"26","author":"Jagla","year":"2017","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2017.11.002_bib13","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1016\/j.bcp.2004.03.045","article-title":"CBP and p300: HATs for different occasions","volume":"68","author":"Kalkhoven","year":"2004","journal-title":"Biochem. Pharmacol."},{"key":"10.1016\/j.ejmg.2017.11.002_bib14","doi-asserted-by":"crossref","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2017.11.002_bib15","article-title":"Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test","author":"Lionel","year":"2017","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2017.11.002_bib16","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1186\/s12881-016-0361-8","article-title":"First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant","volume":"17","author":"Lopez","year":"2016","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib17","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1159\/000375542","article-title":"Exome sequencing identification of EP300 mutation in a proband with coloboma and imperforate anus: possible expansion of the phenotypic spectrum of Rubinstein-Taybi syndrome","volume":"6","author":"Masuda","year":"2015","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ejmg.2017.11.002_bib18","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<81::AID-AJMG19>3.0.CO;2-K","article-title":"Pilomatrixomas in Rubinstein-Taybi syndrome","volume":"77","author":"Masuno","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib19","doi-asserted-by":"crossref","first-page":"2681","DOI":"10.1002\/ajmg.a.37800","article-title":"CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype","volume":"170","author":"Menke","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2017.11.002_bib20","article-title":"Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management","volume":"41","author":"Milani","year":"2015","journal-title":"Ital. J. Pediatr."},{"key":"10.1016\/j.ejmg.2017.11.002_bib21","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/ajmg.1320560125","article-title":"Tumors in Rubinstein-Taybi syndrome","volume":"56","author":"Miller","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib22","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/cge.12348","article-title":"Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene","volume":"87","author":"Negri","year":"2015","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib23","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/humu.22922","article-title":"From whole gene deletion to point mutations of EP300-positive Rubinstein-Taybi patients: new insights into the mutational spectrum and peculiar clinical hallmarks","volume":"37","author":"Negri","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2017.11.002_bib24","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/376348a0","article-title":"Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP","volume":"376","author":"Petrij","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2017.11.002_bib25","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1002\/ajmg.a.35903","article-title":"The role of social networking sites in medical genetics research","volume":"161A","author":"Reaves","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399407000415","article-title":"Rubinstein-Taybi syndrome: clinical and molecular overview","volume":"9","author":"Roelfsema","year":"2007","journal-title":"Expert Rev. Mol. Med."},{"key":"10.1016\/j.ejmg.2017.11.002_bib27","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1086\/429130","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease","volume":"76","author":"Roelfsema","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib28","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1002\/ccr3.598","article-title":"Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum","volume":"4","author":"Sellars","year":"2016","journal-title":"Clin. Case Rep."},{"key":"10.1016\/j.ejmg.2017.11.002_bib29","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1002\/ajmg.a.36883","article-title":"Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome","volume":"167A","author":"Solomon","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib30","doi-asserted-by":"crossref","first-page":"15012","DOI":"10.1038\/npjgenmed.2015.12","article-title":"Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine","volume":"1","author":"Stavropoulos","year":"2016","journal-title":"Npj Genomic Med."},{"key":"10.1016\/j.ejmg.2017.11.002_bib31","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s12098-015-1891-3","article-title":"Rubinstein Taybi syndrome in an Indian child due to EP300 gene mutation","volume":"83","author":"Tamhankar","year":"2016","journal-title":"Indian J. Pediatr."},{"key":"10.1016\/j.ejmg.2017.11.002_bib32","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/ejhg.2010.121","article-title":"Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH","volume":"19","author":"Tsai","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2017.11.002_bib33","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1016\/S1470-2045(16)30249-2","article-title":"Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study","volume":"17","author":"Villani","year":"2016","journal-title":"Lancet Oncol."},{"key":"10.1016\/j.ejmg.2017.11.002_bib34","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/mgg3.177","article-title":"CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome","volume":"4","author":"Wincent","year":"2016","journal-title":"Mol. Genet. Genomic Med."},{"key":"10.1016\/j.ejmg.2017.11.002_bib35","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ajmg.a.36237","article-title":"Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome","volume":"164A","author":"Woods","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib36","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1002\/ajmg.a.36379","article-title":"An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B","volume":"164A","author":"Yu","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2017.11.002_bib37","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1038\/sj.ejhg.5201791","article-title":"Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome","volume":"15","author":"Zimmermann","year":"2007","journal-title":"Eur. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305621?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305621?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:31Z","timestamp":1761709531000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217305621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S1769721217305621"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.11.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genome-wide sequencing expands the phenotypic spectrum of EP300 variants","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.11.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}