{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T23:04:14Z","timestamp":1784070254661,"version":"3.55.0"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aims to delineate the prenatal ultrasound characteristics of four cases of Rubinstein-Taybi syndrome type 2 (RSTS2) and explore potential associations with this condition as detected through prenatal ultrasound.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole exome sequencing (WES) and Sanger sequencing were conducted on four fetuses diagnosed with RSTS2. Prenatal ultrasound data were systematically collected and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All four fetuses were found to have previously unreported\n                      <jats:italic>EP300<\/jats:italic>\n                      variants, which were absent from ClinVar and the Human Gene Mutation Database (HGMD). The prenatal ultrasound findings were diverse; in the second trimester, two fetuses exhibited growth parameters below minus two standard deviations (M-2SD). One fetus showed an abnormal foot posture and thickened plantar skin, another was found to have exencephaly in the first trimester, and one case presented with fetal rhabdomyoma.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study prenatal ultrasound phenotypes associated with\n                      <jats:italic>EP300<\/jats:italic>\n                      variants may add to the phenotypic profile of RSTS2 and could serve as a reference for prenatal diagnosis and counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1867006","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T22:10:31Z","timestamp":1784067031000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Tingting","family":"Ge","sequence":"first","affiliation":[{"name":"Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection of Gansu Province, Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Qi","sequence":"additional","affiliation":[{"name":"Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection of Gansu Province, Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiyuan","family":"Deng","sequence":"additional","affiliation":[{"name":"Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection of Gansu Province, Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Song","sequence":"additional","affiliation":[{"name":"Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection of Gansu Province, Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Hui","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital), Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongwen","family":"Cao","sequence":"additional","affiliation":[{"name":"Planning and Finance Department, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yupei","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital), Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital), Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Lin","sequence":"additional","affiliation":[{"name":"Key Laboratory of Maternal-Fetal Medicine and Reproductive Protection of Gansu Province, Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital)","place":["Lanzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"key":"B19","article-title":"Helsinki 1975 and the transformation of Europe","author":"Bange","year":"2008"},{"key":"B1","doi-asserted-by":"publisher","first-page":"2926","DOI":"10.1002\/ajmg.a.61883","article-title":"EP300-related rubinstein-taybi syndrome: highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients","volume":"182","author":"Cohen","year":"2020","journal-title":"Am. 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