{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:30:38Z","timestamp":1790753438449,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T00:00:00Z","timestamp":1646784000000},"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":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Rubinstein\u2013Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element\u2010binding protein (CREB)\u2010binding protein (<jats:italic>CREBBP<\/jats:italic>) or in the E1A\u2010associated protein p300 (<jats:italic>EP300<\/jats:italic>) genes have been demonstrated in 55% (RSTS1) and up to 8% of the patients (RSTS2), respectively. Dysfunction of immune response has been reported in a subgroup of individuals with RSTS. Here we characterize two patients carrying the same <jats:italic>EP300<\/jats:italic> variant and distinctive RSTS features (including congenital heart abnormalities, short stature, feeding problems, and gastroesophageal reflux). Whole exome sequencing did not support a dual molecular diagnosis hypothesis. Nonetheless, patients showed distinct clinical manifestations and immunological features. The most severe phenotype was associated with reduced T\u2010cell production and diversity. This latter feature was confirmed in a control group of four RSTS patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62719","type":"journal-article","created":{"date-parts":[[2022,3,10]],"date-time":"2022-03-10T05:55:33Z","timestamp":1646891733000},"page":"2129-2134","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identical <scp><i>EP300<\/i><\/scp> variant leading to Rubinstein\u2013Taybi syndrome with different clinical and immunologic phenotype"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0767-3905","authenticated-orcid":false,"given":"Francesco","family":"Saettini","sequence":"first","affiliation":[{"name":"Pediatric Hematology Outpatient Clinic, Pediatric Department Fondazione MBBM  Monza Italy"},{"name":"Centro Ricerca M. Tettamanti University of Milano Bicocca, Fondazione MBBM\/San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Fazio","sequence":"additional","affiliation":[{"name":"Centro Ricerca M. Tettamanti University of Milano Bicocca, Fondazione MBBM\/San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bonati","sequence":"additional","affiliation":[{"name":"Ambulatorio di Genetica Medica Istituto Auxologico Italiano, IRCCS  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Moratto","sequence":"additional","affiliation":[{"name":"Flow Cytometry Laboratory, Diagnostic Department ASST Spedali Civili  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Massa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Di Fede","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Castiglioni","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Marchetti","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST\u2010Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Chiarini","sequence":"additional","affiliation":[{"name":"Flow Cytometry Laboratory, Diagnostic Department ASST Spedali Civili  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Sottini","sequence":"additional","affiliation":[{"name":"Centro di Ricerca Emato\u2010oncologica AIL (CREA) ASST Spedali Civili  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Laboratorio di Genetica Medica ASST\u2010Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Cazzaniga","sequence":"additional","affiliation":[{"name":"Centro Ricerca M. Tettamanti University of Milano Bicocca, Fondazione MBBM\/San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Imberti","sequence":"additional","affiliation":[{"name":"Centro di Ricerca Emato\u2010oncologica AIL (CREA) ASST Spedali Civili  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Biondi","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Outpatient Clinic, Pediatric Department Fondazione MBBM  Monza Italy"},{"name":"Centro Ricerca M. Tettamanti University of Milano Bicocca, Fondazione MBBM\/San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Badolato","sequence":"additional","affiliation":[{"name":"Pediatrics Clinic and A. Nocivelli Institute for Molecular Medicine A, Department of Clinical and Experimental Sciences University of Brescia, ASST\u2010Spedali Civili  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cei.13062"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0527-7"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00758-x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.v97.9.2772"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100354"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40635"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00808-4"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/pai.12968"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880018.2021.1928802"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.220889"}],"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.62719","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62719","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62719","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T08:55:55Z","timestamp":1692867355000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62719"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,9]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/ajmg.a.62719"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62719","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,9]]},"assertion":[{"value":"2021-04-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}