{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T10:13:59Z","timestamp":1784110439190,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T00:00:00Z","timestamp":1424822400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012416","name":"Inova Health System","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012416","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Rubinstein\u2013Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving <jats:italic>CREBBP<\/jats:italic> or, less commonly, <jats:italic>EP300<\/jats:italic>. To date, only 15 patients with <jats:italic>EP300<\/jats:italic> mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congenital anomalies are less frequently reported. We describe a child found to have a de novo <jats:italic>EP300<\/jats:italic> mutation (c.4933C&gt;T, predicted to result in p.Arg1645X) through research\u2010based whole\u2010genome sequencing of the family trio. The child's presentation involved dysmorphic features as well as unilateral renal agenesis, a myelomeningocele, and minor genitourinary anomalies. The involvement of congenital anomalies in all 16 clinically described patients with <jats:italic>EP300<\/jats:italic> mutations (25% of which have been identified by \u201chypothesis free\u201d methods, including microarray, exome, and whole\u2010genome sequencing) is reviewed. In summary, genitourinary anomalies have been identified in 38%, cardiovascular anomalies in 25%, spinal\/vertebral anomalies in 19%, other skeletal anomalies in 19%, brain anomalies in 13%, and renal anomalies in 6%. Our patient expands the phenotypic spectrum in <jats:italic>EP300<\/jats:italic>\u2010related RSTS; this case demonstrates the evolving practice of clinical genomics related to increasing availability of genomic sequencing methods. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36883","type":"journal-article","created":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T11:33:34Z","timestamp":1424864014000},"page":"1111-1116","source":"Crossref","is-referenced-by-count":32,"title":["Expanding the phenotypic spectrum in <i>EP300<\/i>\u2010related Rubinstein\u2013Taybi syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Benjamin D.","family":"Solomon","sequence":"first","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"},{"name":"Department of Pediatrics Inova Health System Falls Church Virginia"},{"name":"Department of Pediatrics Virginia Commonwealth University School of Medicine Richmond Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale L.","family":"Bodian","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Khromykh","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela Gomez","family":"Mora","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan C.","family":"Lanpher","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Children's National Medical Center Washington District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramaswamy K.","family":"Iyer","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"},{"name":"Department of Obstetrics and Gynecology Virginia Commonwealth University School of Medicine Richmond Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajiv","family":"Baveja","sequence":"additional","affiliation":[{"name":"Fairfax Neonatal Associates Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Vockley","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"},{"name":"Department of Pediatrics Virginia Commonwealth University School of Medicine Richmond Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John E.","family":"Niederhuber","sequence":"additional","affiliation":[{"name":"Inova Translational Medicine Institute Inova Health System Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,2,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046698"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33153"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-77"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.107"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470893159"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32771"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201594"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22048"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370604"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200706"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-28"},{"key":"e_1_2_6_13_1","article-title":"Clinical 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