{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:57:55Z","timestamp":1785772675444,"version":"3.56.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["26ek0109743h0003"],"award-info":[{"award-number":["26ek0109743h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2025A\u20102"],"award-info":[{"award-number":["2025A\u20102"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Monoallelic loss\u2010of\u2010function variants of\n                    <jats:italic>GATA4<\/jats:italic>\n                    have been implicated in congenital heart defects, 46,XY differences of sex development, and congenital diaphragmatic hernia (CDH). However, there is no report of\n                    <jats:italic>GATA4<\/jats:italic>\n                    \u2010variant positive patients who concomitantly exhibited these three features. Furthermore, the genotype\u2013phenotype correlation of\n                    <jats:italic>GATA4<\/jats:italic>\n                    abnormality remains unclear. Here, we report a 2\u2010year\u2010old boy who exhibited pulmonary valve stenosis, multiple atrial septal defects, hypospadias, bifid scrotum, bilateral inguinal hernia, and CDH. Endocrine evaluations of the patient were indicative of partial testicular dysgenesis. Exome sequencing identified a de novo 3\u2010bp deletion in\n                    <jats:italic>GATA4<\/jats:italic>\n                    that has not been reported previously. The variant eliminated one amino acid from the highly conserved five\u2010threonine repeat in the second zinc finger domain (c.829_831del, p.T277del). The variant was assessed as deleterious by in silico analyses and was scored as \u201clikely pathogenic\u201d by the American College of Medical Genetics and Genomics guidelines. Our findings indicate that the five\u2010threonine repeat in the second zinc finger domain contributes to GATA4 function. These results broaden the spectrum of\n                    <jats:italic>GATA4<\/jats:italic>\n                    pathogenic variants and highlight the phenotypic diversity resulting from\n                    <jats:italic>GATA4<\/jats:italic>\n                    abnormalities.\n                  <\/jats:p>","DOI":"10.1111\/cge.70189","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T02:49:41Z","timestamp":1780109381000},"page":"374-378","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>GATA4<\/scp>\n                    Single\u2010Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia"],"prefix":"10.1111","volume":"110","author":[{"given":"Nobuhiko","family":"Koga","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development  Tokyo Japan"},{"name":"Department of Pediatrics, Faculty of Medicine Fukuoka University  Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Katoh\u2010Fukui","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadahiro","family":"Fukui","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development  Tokyo Japan"},{"name":"Division of Endocrinology and Metabolism National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2505-5932","authenticated-orcid":false,"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism National Center for Child Health and Development  Tokyo Japan"},{"name":"Division of Systems Pathobiology National Research Institute for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R000029200"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1010257108"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0144145"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002690"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010010"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.09.050"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.06.004"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2018.00142"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0062138"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00203.2025"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2025.1560698"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010012\u20101249\u20100"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266251381440"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2025.105059"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deae057"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.307.6905.655"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12857"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003\u2010025\u201007504\u20102"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21004"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2008.06.072"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.91"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.025395"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0735\u20101097(02)01886\u20107"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70189","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70189","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:31:29Z","timestamp":1785771089000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,29]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1111\/cge.70189"],"URL":"https:\/\/doi.org\/10.1111\/cge.70189","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,29]]},"assertion":[{"value":"2026-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}