{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:07:32Z","timestamp":1777370852471,"version":"3.51.4"},"reference-count":49,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,12,20]],"date-time":"2015-12-20T00:00:00Z","timestamp":1450569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007688","name":"American University of Beirut","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007688","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content> transcription factors are evolutionary conserved zinc finger proteins with multiple roles in cell differentiation\/proliferation and organogenesis. <jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>5 is only transiently expressed in the embryonic heart, and the inactivation of both <jats:italic>Gata5<\/jats:italic> alleles results in a partially penetrant bicuspid aortic valve (<jats:styled-content style=\"fixed-case\">BAV<\/jats:styled-content>) phenotype in mice. We hypothesized that only biallelic mutations in <jats:italic><jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>5<\/jats:italic> could be disease causing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 185 patients with different forms of congenital heart disease (<jats:styled-content style=\"fixed-case\">CHD<\/jats:styled-content>) were screened along 150 healthy individuals for <jats:italic><jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>4, 5<\/jats:italic>, and <jats:italic>6<\/jats:italic>. All patients' phenotypes were diagnosed with echocardiography.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sequencing results revealed eight missense variants (three of which are novel) in cases with various conotruncal and septal defects. Out of these, two were inherited in recessive forms: the p.T67P variant, which was found both in patients and in healthy individuals, and the previously described p.Y142H variant which was only found in a patient with a double outlet right ventricle (<jats:styled-content style=\"fixed-case\">DORV<\/jats:styled-content>). We characterized the p.Y142H variant and showed that it significantly reduced the transcriptional activity of the protein over cardiac promoters by 30\u201340%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results do prove that p.Y142H is associated with <jats:styled-content style=\"fixed-case\">DORV<\/jats:styled-content> and suggests including <jats:italic><jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>5<\/jats:italic> as a potential gene to be screened in patients with this phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.190","type":"journal-article","created":{"date-parts":[[2015,12,21]],"date-time":"2015-12-21T00:18:44Z","timestamp":1450657124000},"page":"160-171","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["<scp>GATA<\/scp>5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient"],"prefix":"10.1002","volume":"4","author":[{"given":"Kameel","family":"Kassab","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadla","family":"Hariri","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Gharibeh","sequence":"additional","affiliation":[{"name":"Department of Biochemistry University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akl C.","family":"Fahed","sequence":"additional","affiliation":[{"name":"Department of Genetics Harvard Medical School and Department of Internal Medicine Massachusetts General Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal","family":"Zein","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inaam","family":"El\u2010Rassy","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Nemer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Issam","family":"El\u2010Rassi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fadi","family":"Bitar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon"},{"name":"Department of Surgery American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georges","family":"Nemer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-199610000-00015"},{"key":"e_1_2_7_4_1","first-page":"159","article-title":"Congenital heart disease at a tertiary care center in Lebanon","volume":"15","author":"Bitar F. 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