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Nevertheless, CHD is genetically heterogeneous, and the molecular basis for CHD in a majority of patients remains unknown. In this study, the whole coding region of\n                    <jats:italic toggle=\"yes\">GATA6<\/jats:italic>\n                    , a gene encoding a zinc-finger transcription factor crucial for normal cardiogenesis, was sequenced in 380 unrelated patients with CHD. The relatives of the index patients harboring the identified mutations and 200 unrelated control individuals were subsequently genotyped. The functional effect of the mutations was characterized using a luciferase reporter assay system. As a result, two novel heterozygous\n                    <jats:italic toggle=\"yes\">GATA6<\/jats:italic>\n                    mutations, p.D404Y and p.E460X, were identified in two families with ventricular septal defect and tetralogy of Fallot, respectively. The mutations co-segregated with CHD in the families with complete penetrance, and were absent in 400 control chromosomes. Functional analysis demonstrated that the mutated GATA6 proteins were associated with significantly decreased transactivational activity in comparison with their wild-type counterpart. These findings provide novel insight into the molecular mechanism implicated in CHD, suggesting potential implications for the early prophylaxis and personalized treatment of CHD.\n                  <\/jats:p>","DOI":"10.1089\/dna.2012.1814","type":"journal-article","created":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T12:11:12Z","timestamp":1349007072000},"page":"1610-1617","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":51,"title":["Novel\n                    <i>GATA6<\/i>\n                    Mutations Associated with Congenital Ventricular Septal Defect or Tetralogy of Fallot"],"prefix":"10.1177","volume":"31","author":[{"given":"Juan","family":"Wang","sequence":"first","affiliation":[{"name":"Tongji University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue-Jiao","family":"Luo","sequence":"additional","affiliation":[{"name":"Tongji University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan-Feng","family":"Xin","sequence":"additional","affiliation":[{"name":"Tongji University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Liu","sequence":"additional","affiliation":[{"name":"Tongji University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong-Min","family":"Liu","sequence":"additional","affiliation":[{"name":"Tongji University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanghai Jiaotong University School of Medicine","place":["China"]},{"name":"Shanghai Jiaotong University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-Gu","family":"Li","sequence":"additional","affiliation":[{"name":"Shanghai Jiaotong University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Yi","family":"Fang","sequence":"additional","affiliation":[{"name":"Shanghai Jiaotong University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Zhou","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanghai Jiaotong University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[{"name":"Shanghai Jiaotong University School of Medicine","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,11,1]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1007\/s00246-009-9605-0","article-title":"Examining the cardiac NK-2 genes in early heart development","volume":"31","author":"Bartlett H.","year":"2010","unstructured":"Bartlett H., , Veenstra G.J., , Weeks D.L. 2010. Examining the cardiac NK-2 genes in early heart development. Pediatr Cardiol, 31:335\u2013341.","journal-title":"Pediatr Cardiol"},{"key":"e_1_3_3_3_1","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00246-009-9607-y","article-title":"Genetic origins of pediatric heart disease","volume":"31","author":"Benson D.W.","year":"2010","unstructured":"Benson D.W. 2010. Genetic origins of pediatric heart disease. 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