{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:01:58Z","timestamp":1791216118352,"version":"4.1.0"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:sec>\n                    <jats:title>Background\u2014<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>GATA4<\/jats:italic>\n                      gene is critical to regulating myocardial differentiation and function. Haploinsufficiency of\n                      <jats:italic>GATA4<\/jats:italic>\n                      is strongly associated with congenital heart defects (CHD). However, it is inconclusive whether duplicated\n                      <jats:italic>GATA4<\/jats:italic>\n                      causes CHD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results\u2014<\/jats:title>\n                    <jats:p>\n                      We evaluated 1645 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 8 probands and 2 relatives with pathogenic genomic imbalances containing\n                      <jats:italic>GATA4<\/jats:italic>\n                      . Four probands contain an \u22484.0-Mb interstitial duplication of 8p23.1 flanked by the 2 olfactory receptor gene clusters REPD and REPP, representing 0.24% (4\/1645) of the patients analyzed. None of the 4 patients has CHD or any other heart diseases and 1 mother who transmitted the duplication to her child has a history of aortic stenosis. Two patients who carry multiple genomic abnormalities, including a duplication containing\n                      <jats:italic>GATA4<\/jats:italic>\n                      , have complex CHD. Only 1 of the 3 individuals carrying genomic deletion containing\n                      <jats:italic>GATA4<\/jats:italic>\n                      has atrial septal and ventricular septal defects.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions\u2014<\/jats:title>\n                    <jats:p>\n                      Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing\n                      <jats:italic>GATA4.<\/jats:italic>\n                      A 0.24% detection rate of this duplication in this study is significantly higher than previously estimated. Observation in 2 patients with multiple genomic abnormalities and complex CHD is consistent with a 2-hit model that emphasizes accumulative effects of &gt;1 insult to the genome, leading to a visible or more severe clinical manifestation. Haploinsufficient\n                      <jats:italic>GATA4<\/jats:italic>\n                      may show variable expressivity with a wide spectrum of clinical findings, including CHD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgenetics.111.960302","type":"journal-article","created":{"date-parts":[[2011,9,20]],"date-time":"2011-09-20T23:04:44Z","timestamp":1316559884000},"page":"620-625","source":"Crossref","is-referenced-by-count":25,"title":["Cardiac Defects Are Infrequent Findings in Individuals With 8p23.1 Genomic Duplications Containing\n                    <i>GATA4<\/i>"],"prefix":"10.1161","volume":"4","author":[{"given":"Shihui","family":"Yu","sequence":"first","affiliation":[{"name":"From the Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO (S.Y., X.-G.Z., S.D.F., S.J.B., J.M.J), and Department of Cardiac Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China (X.-G.Z., H.-Y.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Gang","family":"Zhou","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO (S.Y., X.-G.Z., S.D.F., S.J.B., J.M.J), and Department of Cardiac Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China (X.-G.Z., H.-Y.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie D.","family":"Fiedler","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO (S.Y., X.-G.Z., S.D.F., S.J.B., J.M.J), and Department of Cardiac Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China (X.-G.Z., H.-Y.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J.","family":"Brawner","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO (S.Y., X.-G.Z., S.D.F., S.J.B., J.M.J), and Department of Cardiac Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China (X.-G.Z., H.-Y.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie M.","family":"Joyce","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO (S.Y., X.-G.Z., S.D.F., S.J.B., J.M.J), and Department of Cardiac Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China (X.-G.Z., H.-Y.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"From the Department of Pathology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO (S.Y., X.-G.Z., S.D.F., S.J.B., J.M.J), and Department of Cardiac Surgery, the First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China (X.-G.Z., H.-Y.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.13.4.2235"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.18.5687"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018895"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30684"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.025395"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052183"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201932"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201475"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.491"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-3"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.66"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32522"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32769"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1309\/AJCP1BOUTWF6ERYS"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2009.0056"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0404-5"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.534"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature09146"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32896"}],"container-title":["Circulation: 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