{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:32Z","timestamp":1747151372379,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"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":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a fetus from a Chinese family whose parents were both healthy but showed multiple malformations, including clubfoot, camptodactyly, micrognathia, and cleft palate. Genomic DNA was extracted from the peripheral blood of the proband's parents and skeletal muscle tissue from the aborted fetus to determine the diagnosis and underlying cause. Whole\u2010exome sequencing revealed that the fetus was heterozygous for a novel variant of uncertain significance in exon 56 (c.8576G&gt;A; p.Trp2859*) of the Piezo\u2010type mechanosensitive ion channel component 2 gene (<jats:italic>PIEZO2<\/jats:italic>) (NM_001378183.1). A diagnosis of Gordon syndrome (GS) was made from the presence of this variant and ultrasonic manifestation. Sanger sequencing of the proband's parents resulted in normal chromatograms, suggesting that this was either a de novo variant in the fetus or, less likely, the result of germline mosaicism in the proband's mother or father. This is the first description of GS caused by a <jats:italic>PIEZO2<\/jats:italic> variant in which the fetus was the proband. A prenatal diagnosis of GS can be established by fetal ultrasound examination combined with genetic testing.<\/jats:p>","DOI":"10.1002\/pd.6422","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T04:30:39Z","timestamp":1692246639000},"page":"1370-1373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel <i>PIEZO2<\/i> mutation in a fetus from a Chinese family with Gordon syndrome"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0576-4398","authenticated-orcid":false,"given":"Lihong","family":"Pu","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"}]},{"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":"Dan","family":"Liu","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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3054-0601","authenticated-orcid":false,"given":"Yu","family":"Wang","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":"The Joint Laboratory for Lung Development and Related Diseases, West China Institute of Women and Children\u2019s Health West China Second University Hospital of Sichuan University  Chengdu China"},{"name":"Sichuan Birth Defects Clinical Research Center West China Second University Hospital of Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaolan","family":"He","sequence":"additional","affiliation":[{"name":"Ziyang Maternal and Child Health Care Hospital  Ziyang China"},{"name":"Ziyang Women and Children Hospital West China Second University Hospital of Sichuan University  Ziyang 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"},{"name":"Ziyang Maternal and Child Health Care Hospital  Ziyang China"},{"name":"Ziyang Women and Children Hospital West China Second University Hospital of Sichuan University  Ziyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,16]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_7_2_1","DOI":"10.1038\/gim.2015.30"},{"doi-asserted-by":"publisher","key":"e_1_2_7_3_1","DOI":"10.1016\/j.ajhg.2014.03.015"},{"doi-asserted-by":"publisher","key":"e_1_2_7_4_1","DOI":"10.1126\/science.1193270"},{"doi-asserted-by":"publisher","key":"e_1_2_7_5_1","DOI":"10.1073\/pnas.1221400110"},{"doi-asserted-by":"publisher","key":"e_1_2_7_6_1","DOI":"10.3892\/etm.2019.7381"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6422","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T06:20:09Z","timestamp":1694586009000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6422"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,16]]},"references-count":5,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/pd.6422"],"URL":"https:\/\/doi.org\/10.1002\/pd.6422","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2023,8,16]]},"assertion":[{"value":"2023-06-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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