{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:45:46Z","timestamp":1793907946239,"version":"4.8.0"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T00:00:00Z","timestamp":1765324800000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U21A20523"],"award-info":[{"award-number":["U21A20523"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants in the\n                      <jats:italic>SETD5<\/jats:italic>\n                      gene cause autosomal dominant intellectual developmental disorder 23. The limited number of published clinical case reports has hindered a comprehensive understanding of the associated phenotypic spectrum and mutational landscape.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We report a fetal case identified by cardiac ultrasound with an ostium primum atrial septal defect and a suspected high ventricular septal defect.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Whole\u2010exome sequencing revealed a novel, previously unreported frameshift variant in\n                      <jats:italic>SETD5<\/jats:italic>\n                      (NM_001080517.3; exon21: c.3601_3605del, p. Trp1201GlufsTer2). Segregation analysis confirmed it to be a de novo\u2009variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case expands the known mutational spectrum of\n                      <jats:italic>SETD5<\/jats:italic>\n                      . A review of the literature allows for a synthesis of the characteristic clinical features of this rare disorder.\u2009Congenital heart defects, including atrial and ventricular septal defects, can serve as early diagnostic indicators. Fetal cardiac ultrasound represents a valuable tool for early screening, underscoring the critical importance of prenatal whole\u2010exome sequencing in such cases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/bdr2.70003","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T09:54:40Z","timestamp":1765360480000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Case of a Fetus With\n                    <i>SETD5<\/i>\n                    Mutation: Prenatal Phenotype and Literature Review"],"prefix":"10.1002","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9187-3436","authenticated-orcid":false,"given":"Jiaqi","family":"Fan","sequence":"first","affiliation":[{"name":"Maternal\u2010Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography Beijing Anzhen Hospital, Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hairui","family":"Sun","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography Beijing Anzhen Hospital, Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Xinqiao Hospital Army Medical University  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siyao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography Beijing Anzhen Hospital, Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Xinqiao Hospital Army Medical University  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihua","family":"He","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Consultation Center of Congenital Heart Disease, Department of Echocardiography Beijing Anzhen Hospital, Capital Medical University  Beijing 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