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The aim of this study was to identify the genetic defect for EVC in a five\u2010generation consanguineous Han\u2010Chinese pedigree.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A five\u2010generation, 12\u2010member Han\u2010Chinese pedigree was enrolled in this study. Exome sequencing was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members and 200 unrelated ethnicity\u2010matched controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel homozygous variant, c.2014C&gt;T, p.(Q672*), in the EvC ciliary complex subunit 1 gene (<jats:italic>EVC<\/jats:italic>), was detected in the patient, which was cosegregated with the disease in the family and absent in the controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The identified novel homozygous <jats:italic>EVC<\/jats:italic> variant, c.2014C&gt;T, p.(Q672*), was responsible for EVC in this Han\u2010Chinese pedigree. The findings in this study extend the <jats:italic>EVC<\/jats:italic> mutation spectrum and may provide new insights into EVC causation and diagnosis with implications for genetic counseling and clinical management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.885","type":"journal-article","created":{"date-parts":[[2019,7,24]],"date-time":"2019-07-24T05:32:28Z","timestamp":1563946348000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of a novel <i>EVC<\/i> variant in a Han\u2010Chinese family with Ellis\u2010van Creveld syndrome"],"prefix":"10.1002","volume":"7","author":[{"given":"Xiangjun","family":"Huang","sequence":"first","affiliation":[{"name":"Department of General Surgery The First Affiliated Hospital of Hunan University of Chinese Medicine Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Medical Information, School of Life Sciences Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhijian","family":"Yang","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiong","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3240-4352","authenticated-orcid":false,"given":"Hao","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7558-0669","authenticated-orcid":false,"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine The Third Xiangya Hospital, Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijscr.2017.08.022"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000104"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7007-9-14"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2012.10.001"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60101-5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4490"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.11.005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-9125-z"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1393733"},{"issue":"4","key":"e_1_2_7_11_1","first-page":"253","article-title":"Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing","volume":"50","author":"Guo Y.","year":"2013","journal-title":"Indian Journal of Biochemistry & Biophysics"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.4103\/0366-6999.186634"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13068"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20171300"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.12659\/AJCR.905976"},{"issue":"4","key":"e_1_2_7_16_1","first-page":"363","article-title":"Ellis\u2010van Creveld syndrome","volume":"47","author":"Lichiardopol C.","year":"2006","journal-title":"Romanian Journal of Morphology and Embryology"},{"issue":"1","key":"e_1_2_7_17_1","first-page":"1527","article-title":"Molecular mechanisms of Ellis\u2010van Creveld gene variations in ventricular septal defect","volume":"17","author":"Liu F.","year":"2018","journal-title":"Molecular Medicine Reports"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/8631602"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12155"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.11622\/smedj.2015097"},{"issue":"8","key":"e_1_2_7_21_1","first-page":"OD12","article-title":"Adult survival in Ellis\u2010van Creveld syndrome with common atrium\u2014A rare case report","volume":"11","author":"Rao M. 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