{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:41:11Z","timestamp":1791214871211,"version":"4.1.0"},"reference-count":37,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Recent reports have identified mutations in the transcription factor <jats:italic>GATA4<\/jats:italic> in familial cases of cardiac septal defects. The prevalence of <jats:italic>GATA4<\/jats:italic> mutations in the population of patients with septal defects is unknown. Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have <jats:italic>GATA4<\/jats:italic> mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aims:<\/jats:title>\n                  <jats:p>To explore these questions by investigating a large population of 628 patients with either septal or conotruncal defects for <jats:italic>GATA4<\/jats:italic> sequence variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>The <jats:italic>GATA4<\/jats:italic> coding region and exon\u2013intron boundaries were investigated for sequence variants using denaturing high-performance liquid chromatography or conformation-sensitive gel electrophoresis. Samples showing peak or band shifts were reamplified from genomic DNA and sequenced.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Four missense sequence variants (Gly93Ala, Gln316Glu, Ala411Val, Asp425Asn) were identified in five patients (two with atrial septal defect, two with ventricular septal defect and one with tetralogy of Fallot), which were not seen in a control population. All four affected amino acid residues are conserved across species, and two of the sequence variants lead to changes in polarity. Ten synonymous sequence variants were also identified in 18 patients, which were not seen in the control population.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>These data suggest that non-synonymous <jats:italic>GATA4<\/jats:italic> sequence variants are found in a small percentage of patients with septal defects and are very uncommonly found in patients with conotruncal defects.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.052183","type":"journal-article","created":{"date-parts":[[2007,11,30]],"date-time":"2007-11-30T16:28:03Z","timestamp":1196440083000},"page":"779-783","source":"Crossref","is-referenced-by-count":182,"title":["<i>GATA4<\/i> sequence variants in patients with congenital heart disease"],"prefix":"10.1136","volume":"44","author":[{"given":"A","family":"Tomita-Mitchell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C L","family":"Maslen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C D","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Garg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Goldmuntz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,11,30]]},"reference":[{"key":"2025101710160122000_44.12.779.1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/oxfordjournals.aje.a113979","article-title":"Congenital heart disease: prevalence at livebirth. The Baltimore- Washington Infant Study.","volume":"121","author":"Ferencz","year":"1985","journal-title":"Am J Epidemiol"},{"key":"2025101710160122000_44.12.779.2","first-page":"33","article-title":"Infants with congenital heart disease: the cases.","volume-title":"Epidemiology of congenital heart disease: the Baltimore-Washingtion Infant Study 1981\u20131989","volume":"4","author":"Perry","year":"1993"},{"key":"2025101710160122000_44.12.779.3","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.53.4.701"},{"key":"2025101710160122000_44.12.779.4","first-page":"59","article-title":"Malformations of the cardiac outflow tract.","volume":"5","author":"Ferencz","year":"1997","journal-title":"Genetic and environmental risk factors of major cardiovascular malformations: the Baltimore-Washington Infant Study: 1981\u20131989"},{"key":"2025101710160122000_44.12.779.5","doi-asserted-by":"publisher","DOI":"10.1038\/35025190"},{"key":"2025101710160122000_44.12.779.6","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"2025101710160122000_44.12.779.7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8154"},{"key":"2025101710160122000_44.12.779.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.05.004"},{"key":"2025101710160122000_44.12.779.9","doi-asserted-by":"publisher","DOI":"10.1161\/hc4601.098427"},{"key":"2025101710160122000_44.12.779.10","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"2025101710160122000_44.12.779.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018895"},{"key":"2025101710160122000_44.12.779.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026740"},{"key":"2025101710160122000_44.12.779.13","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.a.30684","article-title":"Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.","volume":"135","author":"Hirayama-Yamada","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025101710160122000_44.12.779.14","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/humu.9410","article-title":"A novel mutation in the GATA4 gene in patients with tetralogy of Fallot.","volume":"27","author":"Nemer","year":"2006","journal-title":"Hum Mutat"},{"key":"2025101710160122000_44.12.779.15","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"2025101710160122000_44.12.779.16","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.4.432"},{"key":"2025101710160122000_44.12.779.17","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V"},{"key":"2025101710160122000_44.12.779.18","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1002\/ajmg.a.31652","article-title":"Screening and biochemical analysis of GATA4 sequence variations in patients with congenital heart disease.","volume":"143","author":"Schluterman","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025101710160122000_44.12.779.19","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1089\/gte.1997.1.201","article-title":"Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system.","volume":"1","author":"Kuklin","year":"1997","journal-title":"Genet Test"},{"key":"2025101710160122000_44.12.779.20","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201023"},{"key":"2025101710160122000_44.12.779.21","doi-asserted-by":"publisher","DOI":"10.1101\/gr.176601"},{"key":"2025101710160122000_44.12.779.22","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"2025101710160122000_44.12.779.23","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(00)01988-0"},{"key":"2025101710160122000_44.12.779.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.6.591"},{"key":"2025101710160122000_44.12.779.25","doi-asserted-by":"publisher","DOI":"10.1038\/nrg775"},{"key":"2025101710160122000_44.12.779.26","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg616"},{"key":"2025101710160122000_44.12.779.27","doi-asserted-by":"publisher","DOI":"10.1086\/511992"},{"key":"2025101710160122000_44.12.779.28","doi-asserted-by":"publisher","DOI":"10.1038\/ng0102-13"},{"key":"2025101710160122000_44.12.779.29","doi-asserted-by":"publisher","DOI":"10.1038\/ng1159"},{"key":"2025101710160122000_44.12.779.30","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.28.120194.002515"},{"key":"2025101710160122000_44.12.779.31","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90392-5"},{"key":"2025101710160122000_44.12.779.32","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206238"},{"key":"2025101710160122000_44.12.779.33","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.08.008"},{"key":"2025101710160122000_44.12.779.34","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0604604103"},{"key":"2025101710160122000_44.12.779.35","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138239"},{"key":"2025101710160122000_44.12.779.36","doi-asserted-by":"publisher","DOI":"10.1126\/science.1135308"},{"key":"2025101710160122000_44.12.779.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(98)00259-9"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.052183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:16:09Z","timestamp":1760721369000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.052183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,30]]},"references-count":37,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2007,11,30]]},"published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1136\/jmg.2007.052183"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.052183","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11,30]]}}}