{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T16:28:02Z","timestamp":1774542482583,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Rubinstein\u2013Taybi syndrome (RSTS) is a rare autosomal\u2010dominant genetic disease caused by variants of <jats:italic>CREBBP<\/jats:italic> (RSTS1) or <jats:italic>EP300<\/jats:italic> (RSTS2) gene. RSTS2 is much less common, with less than 200 reported cases worldwide to date. More reports are still needed to increase the understanding of its clinical manifestations and genetic characteristics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical data of two children with RSTS2 were analyzed retrospectively, and their clinical manifestations, auxiliary examinations, and mutational spectrum were summarized. Liquid chromatography\u2013tandem mass spectrometer (LC\u2013MS\/MS) technology was used to detect the levels of steroid hormones if possible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After analyzing the clinical and genetic characteristics of two boys with RSTS2 (0.7 and 10.4\u2009years old, respectively) admitted in our hospital, we identified two novel heterozygous variants in the <jats:italic>EP300<\/jats:italic> exon 22 (c.3750C\u2009&gt;\u2009A, p. Cys1250*, pathogenic; c.1889A\u2009&gt;\u2009G, p. Tyr630Cys, likely pathogenic), which could account for their phenotype. In addition to common clinical manifestations such as special facial features, microcephaly, growth retardation, intellectual disability, speech delay, congenital heart defect, recurrent respiratory infections, and immunodeficiency, we found one of them had a rare feature of adrenal insufficiency, and LC\u2013MS\/MS detection showed an overall decrease in steroid hormones.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In our study, we identified two novel variants in the <jats:italic>EP300<\/jats:italic> exon 22, and for the first time, we reported a case of RSTS2 associated with adrenal insufficiency, which will enrich the clinical and mutational spectrum of this syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2192","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T04:01:11Z","timestamp":1683777671000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel heterozygous variants in the <i>EP300<\/i> gene cause <scp>Rubinstein\u2013Taybi<\/scp> syndrome 2: Reports from two Chinese children"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2306-0298","authenticated-orcid":false,"given":"Caiqi","family":"Du","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1634-6295","authenticated-orcid":false,"given":"Zhuoguang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Department of Endocrinology Shenzhen Children's Hospital  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biao","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuesong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College Huazhong University of Science and Technology  Wuhan 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