{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T03:55:07Z","timestamp":1769572507897,"version":"3.49.0"},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T00:00:00Z","timestamp":1672358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims<\/jats:title><jats:p>A couple was referred for prenatal counseling at gestational age 21\u00a0weeks for revealed situs inversus with levocardia (HP:0,031,592), atrial situs inversus (HP:0,011,538), congenitally corrected transposition of the great arteries (ccTGA, HP:0,011,540) with ventricular septal defect (HP:0,001,629) and right aortic arch (HP:0,012,020). The couple had multiple prior pregnancies with complex congenital heart defects (CHDs, HP:0,001,627) in male fetuses. Testing was initiated to identify any fetal abnormality. The genetic cause of the observed prenatal defects was investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Whole exome sequencing and Sanger sequencing were performed on DNA extracted from parental blood samples and skeletal muscle tissue of the aborted fetuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A pathogenic hemizygous missense variant in <jats:italic>ZIC3<\/jats:italic> (NM_003413.4: c.895\u00a0T\u00a0&gt;\u00a0C) associated with X\u2010linked heterotaxy\u20101 (HTX1) and multiple types of congenital heart defect\u20101 (CHTD1) (OMIM #306955) was identified, which was inherited from the mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>ZIC3<\/jats:italic> encodes a highly conserved zinc\u2010finger protein that is highly correlated with CHDs. The present study of a Han Chinese family with CHDs expands the mutation spectrum of <jats:italic>ZIC3<\/jats:italic> and provides further evidence that <jats:italic>ZIC3<\/jats:italic> plays important roles in CHDs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6294","type":"journal-article","created":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T04:00:15Z","timestamp":1672027215000},"page":"275-279","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel <i>ZIC3<\/i> mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3054-0601","authenticated-orcid":false,"given":"Yu","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Sichuan University Ministry of Education  Chengdu China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3019-8073","authenticated-orcid":false,"given":"Xiaohui","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Sichuan University Ministry of Education  Chengdu China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanmin","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Sichuan University Ministry of Education  Chengdu China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu China"},{"name":"Department of Pediatric Pulmonology and Immunology West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Chronobiology Sichuan University National Health Commission of China  Chengdu China"},{"name":"The Joint Laboratory for Lung Development and Related Diseases of West China Second University Hospital Sichuan University and School of Life Sciences of Fudan University West China Institute of Women and Children's Health West China Second University Hospital of Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Sichuan University Ministry of Education  Chengdu China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphg.98"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201030204\u20103"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyz009"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.91"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22457"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6294","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6294","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6294","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T03:06:53Z","timestamp":1692587213000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6294"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,30]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/pd.6294"],"URL":"https:\/\/doi.org\/10.1002\/pd.6294","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,30]]},"assertion":[{"value":"2022-10-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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