{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T17:37:58Z","timestamp":1780508278281,"version":"3.54.1"},"reference-count":22,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Congenital diaphragmatic hernia is a genetically heterogeneous condition with a developmental defect in the diaphragm. The\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    gene is essential for fetal heart development, and pathogenic\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    variants are a known cause of structural congenital heart diseases. Haploinsufficiency of GATA4 is also associated with diaphragmatic hernia. Pathogenic\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    sequence variants with isolated diaphragmatic hernia in the absence of congenital heart defects are extremely rare. Our report expands the phenotypic spectrum related to\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    .\n                  <\/jats:p>\n                  <jats:p>\n                    We report a fetus with a prenatal isolated diaphragmatic hernia detected during a routine screening ultrasound. An autopsy of the fetus confirmed a large isolated posterolateral hernia, which affected the left lung volume significantly. Clinical exome sequencing revealed a novel heterozygous nonsense variant c.826C&gt;T,p.(Gln276*) in the\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    gene, which was predicted to cause haploinsufficiency. The variant occurred\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    and was classified as pathogenic.\n                  <\/jats:p>\n                  <jats:p>\n                    The report presents a detailed clinical description of the fetus with ultrasound, MRI, and post-mortem pictures of a rare prenatal isolated diaphragmatic hernia related to a novel pathogenic\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    sequence variant. Prenatal ultrasound screening with further investigation by MRI and a comprehensive gene panel holds a key role in determining the prognosis of a fetus with a diaphragmatic hernia.\n                  <\/jats:p>","DOI":"10.1177\/10935266251381440","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T13:28:57Z","timestamp":1760621337000},"page":"84-88","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of a\n                    <i>GATA4<\/i>\n                    Pathogenic Variant"],"prefix":"10.1177","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4686-4213","authenticated-orcid":false,"given":"Nea","family":"Tulonen","sequence":"first","affiliation":[{"name":"Tyks Laboratories, Genomics, Clinical Genetics, TYKS Turku University Hospital, Finland"},{"name":"University of Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6425-5254","authenticated-orcid":false,"given":"Jussi","family":"Tallus","sequence":"additional","affiliation":[{"name":"University of Turku, Finland"},{"name":"Department of Radiology, TYKS Turku University Hospital, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5706-1718","authenticated-orcid":false,"given":"Heidi","family":"Kaprio","sequence":"additional","affiliation":[{"name":"University of Turku, Finland"},{"name":"Department of Pathology, TYKS Turku University Hospital, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4330-0030","authenticated-orcid":false,"given":"Jukka","family":"Laine","sequence":"additional","affiliation":[{"name":"University of Turku, Finland"},{"name":"Department of Pathology, TYKS Turku University Hospital, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3124-3908","authenticated-orcid":false,"given":"Mirjami","family":"Mattila","sequence":"additional","affiliation":[{"name":"University of Turku, Finland"},{"name":"Department of Obstetrics and Gynecology, TYKS Turku University Hospital, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Haanp\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Tyks Laboratories, Genomics, Clinical Genetics, TYKS Turku University Hospital, Finland"},{"name":"University of Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5689-825X","authenticated-orcid":false,"given":"Sini","family":"Keskinen","sequence":"additional","affiliation":[{"name":"Tyks Laboratories, Genomics, Clinical Genetics, TYKS Turku University Hospital, Finland"},{"name":"University of Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,16]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/GCO.0000000000000615"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/PD.6099"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1053\/J.SEMPERI.2019.07.008"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.08.1082"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1017\/ERM.2016.2"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/IJMS23095255"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/BDRB.21037"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.32896"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3390\/JCM12196111"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.35665"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1152\/AJPLUNG.00027.2008"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/S00439-012-1249-0"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.17.19469"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.190"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/GIM.2015.30"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/S41436-020-0908-0"},{"key":"e_1_3_3_18_2","unstructured":"\u201cGATA4\u201d [GENE] - ClinVar - NCBI. 2025. Accessed January 26 2025. https:\/\/www.ncbi.nlm.nih.gov\/clinvar"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/PD.5327"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.35965"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/PD.2651"},{"key":"e_1_3_3_22_2","unstructured":"GATA4 curation results for Dosage Sensitivity. 2017. Accessed January 26 2025. https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/HGNC:4173"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/BS.CTDB.2022.10.004"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251381440","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266251381440","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266251381440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:12:08Z","timestamp":1777695128000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266251381440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,16]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1177\/10935266251381440"],"URL":"https:\/\/doi.org\/10.1177\/10935266251381440","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,16]]}}}