{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T14:24:58Z","timestamp":1778509498617,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,23]],"date-time":"2023-07-23T00:00:00Z","timestamp":1690070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017686","name":"Fujian Provincial Health Technology Project","doi-asserted-by":"publisher","award":["2020QNB045"],"award-info":[{"award-number":["2020QNB045"]}],"id":[{"id":"10.13039\/501100017686","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic mutations in <jats:italic>EVC<\/jats:italic> or <jats:italic>EVC2<\/jats:italic> gene can lead to Ellis\u2010van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC syndrome in fetuses showing ultrasound anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 32\u2010year\u2010old pregnant woman from Quanzhou, China was investigated. In her pregnancy examination, the fetus exhibited multiple fetal malformations, including a narrow thorax, short limbs, postaxial polydactyly, cardiac malformations, and separation of double renal pelvis. Karyotype, chromosomal microarray analysis and whole exome sequencing were performed for prenatal genetic etiology analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Chromosome abnormalities and copy number variants were not observed in the fetus using karyotype and chromosomal microarray analysis. Using whole exome sequencing, two compound heterozygous variants NM_147127.5:c.[2484G&gt;A(p.Trp828Ter)];[871\u20102_894del] in <jats:italic>EVC2<\/jats:italic> gene were identified in the fetus as pathogenic variants inherited from parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The study is the first to identify two rare compound variants in <jats:italic>EVC2<\/jats:italic> gene in a Chinese family using whole exome sequencing. The application of whole\u2010exome sequencing would be helpful in fetal etiological diagnosis with ultrasound anomalies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2242","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T06:20:13Z","timestamp":1690179613000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal whole exome sequencing identified two rare compound heterozygous variants in <i>EVC2<\/i> causing Ellis\u2010van Creveld syndrome"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8087-205X","authenticated-orcid":false,"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shufen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology The Second Affiliated Hospital of Fujian Medical University  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junyu","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu'e","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ultrasound Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hegan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Gynecology Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuying","family":"Jiang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaoxiong","family":"Wang","sequence":"additional","affiliation":[{"name":"Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunnuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology The Second Affiliated Hospital of Fujian Medical University  Quanzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,7,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-27"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60101-5"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-021-03202-9"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00178-6"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.004"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31336"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/73389"},{"key":"e_1_2_12_10_1","first-page":"306","article-title":"Dwarfism in the Amish I. 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