{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T09:45:41Z","timestamp":1771667141367,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T00:00:00Z","timestamp":1584403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ellis\u2010van Creveld syndrome (EvCS) is a rare autosomal recessive skeletal dysplasia that is characterized by short stature, short limbs, short ribs, polydactyly and structural heart defect. Despite locus heterogeneity, in the majority of the cases, the disorder segregates with mutations in the <jats:italic>EVC<\/jats:italic> and <jats:italic>EVC2<\/jats:italic> genes, notably mutations with truncating protein as a final sequence. In the present study, we report the prenatal findings and genetic analysis of a terminated pregnancy affected by severe thoracic and skeletal dysplasia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After detailed physical and clinical examination, whole exome sequencing (WES) was performed and the variant was confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One homozygote variant in <jats:italic>EVC2<\/jats:italic> gene was identified in the fetus (NM_147127, c.942G&gt;A, p.W314X). The <jats:italic>EVC2<\/jats:italic> gene is strongly associated with EvCS, which is consistent with the sonographic findings of the fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The homozygous p.W314X mutation found in this family was recently reported to be segregated in a consanguineous family originating from Pakistan. The occurrence of the p.W314X mutation in two unrelated families (Iranian and Pakistani) may be the result of an old founder effect or arose because of a mutational hotspot and is supporting evidence for the pathogenicity of this variant. Because skeletal dysplasia belongs to a broad spectrum of syndromes and therefore exhibits considerable background locus and allelic heterogeneity, our report highlights the need for appropriate genetic counseling and supports the feasibility of WES to determine an accurate diagnosis, as well as precise recurrence risk prediction.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3175","type":"journal-article","created":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T01:34:58Z","timestamp":1582076098000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ellis\u2010van Creveld syndrome: Report of a case and recurrent variant"],"prefix":"10.1002","volume":"22","author":[{"given":"Mitra","family":"Eftekhariyazdi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, School of Medicine Sabzevar University of Medical Sciences  Sabzevar Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2970-7953","authenticated-orcid":false,"given":"Mahshid","family":"Meshkani","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Biological sciences Tarbiat Modares University  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Moslem","sequence":"additional","affiliation":[{"name":"Sabzevar University of Medical Sciences  Sabzevar Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pooria","family":"Hakimi","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of science Islamic azad University  Neyshabour Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shamsi","family":"Safari","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Khaligh","sequence":"additional","affiliation":[{"name":"Sabzevar University of Medical Sciences  Sabzevar Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davood","family":"Zare\u2010Abdollahi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran 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