{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T11:58:10Z","timestamp":1783511890874,"version":"3.55.0"},"reference-count":22,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Congenital heart disease (CHD) represents a prevalent group of structural cardiac anomalies often associated with alterations in key transcription factors including NKX2-5, TBX5, and, particularly, GATA4. GATA4 is a zinc finger transcription factor essential for regulating genes involved in cardiogenesis. Here, we report the identification of a novel heterozygous missense variant in GATA4 (NM_002052.5:c.907G&gt;T, p.Gly303Trp) in a family with a history of CHD. The proband, exhibiting ventricular septal defect (VSD) and pulmonary stenosis, was referred for genetic evaluation after recurrent spontaneous abortions occurred in their partner. In addition, the mother of the proband has a history of atrial septal defect (ASD) with pulmonary stenosis, which suggests a familial inheritance pattern.<\/jats:p>","DOI":"10.3390\/ijms26104931","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T06:31:27Z","timestamp":1747809087000},"page":"4931","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8763-0114","authenticated-orcid":false,"given":"Marco","family":"Fabiani","sequence":"first","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costanza","family":"Zangheri","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Cima","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Monaco","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Ali\u2019","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Antonietta","family":"Barone","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Viola","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Mesoraca","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0432-1525","authenticated-orcid":false,"given":"Katia","family":"Margiotti","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Giorlandino","sequence":"additional","affiliation":[{"name":"Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy"},{"name":"Department of Prenatal Diagnosis, Altamedica, Fetal-Maternal Medical Centre, Viale Liegi 45, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,21]]},"reference":[{"key":"ref_1","first-page":"e38","article-title":"Heart Disease and Stroke Statistics-2016 Update: A Report From the American Heart Association","volume":"133","author":"Mozaffarian","year":"2016","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: A systematic review and meta-analysis","volume":"58","author":"Konings","year":"2011","journal-title":"J. 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