{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:57:23Z","timestamp":1773269843282,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ellis\u2010van Creveld syndrome (EvC) is a ciliopathy with cardiac anomalies, disproportionate short stature, polydactyly, dystrophic nails and oral defects. To obtain further insight into the genetics of EvC, we screened <jats:italic>EVC<\/jats:italic>\/<jats:italic>EVC2<\/jats:italic> mutations in eight Vietnamese EvC patients. All the patients had a congenital heart defect with atypical oral and\/or skeletal abnormalities. One had compound heterozygous <jats:italic>EVC2<\/jats:italic> mutations: a novel mutation c.769G\u2009&gt;\u2009T\u2010p.E177X in exon 6 inherited from father and another previously reported c.2476C\u2009&gt;\u2009T\u2010p.R826X mutation in exon 14 inherited from mother. The <jats:italic>EVC2<\/jats:italic> mRNA expression level was significantly lower in the patient and her parents compared to controls. Another case had a novel heterozygous <jats:italic>EVC<\/jats:italic> mutation (c.1717C\u2009&gt;\u2009G\u2010p.S572X) in exon 12, inherited from his father. Of note, the mother without any <jats:italic>EVC<\/jats:italic> mutation on Sanger sequencing showed a lower expression level of <jats:italic>EVC<\/jats:italic> mRNA compared with controls. SNP array analysis revealed that the patient and mother had a heterozygous 16.4\u2009kb deletion in <jats:italic>EVC<\/jats:italic>. This patient also had a heterozygous novel variant in exon 9 of <jats:italic>EFCAB7<\/jats:italic> (c.1171\u2009T\u2009&gt;\u2009C\u2010p.Y391H), inherited from his father. The atypical cardiac phenotype of this patient and the father suggested that EFCAB7 may modify the phenotype by interacting with EVC. In conclusion, we detected two novel nonsense mutations and a partial deletion of <jats:italic>EVC<\/jats:italic>\/<jats:italic>EVC2<\/jats:italic> in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of <jats:italic>EFCAB7<\/jats:italic>, a possible modifier gene in EvC and its related disorders.<\/jats:p>","DOI":"10.1111\/cga.12155","type":"journal-article","created":{"date-parts":[[2016,1,10]],"date-time":"2016-01-10T08:14:18Z","timestamp":1452413658000},"page":"209-216","source":"Crossref","is-referenced-by-count":14,"title":["Truncation and microdeletion of <i>EVC<\/i>\/<i>EVC2<\/i> with missense mutation of <i>EFCAB7<\/i> in Ellis\u2010van Creveld syndrome"],"prefix":"10.1111","volume":"56","author":[{"given":"Tran Quynh Nhu","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine The University of Tokyo  Kyoto Japan"},{"name":"Children's Hospital 2  Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makiko","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine The University of Tokyo  Kyoto Japan"},{"name":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huu Tung","family":"Trinh","sequence":"additional","affiliation":[{"name":"Children's Hospital 2  Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Minh Thien","family":"Doan","sequence":"additional","affiliation":[{"name":"Department of General Internal Medicine University of Medicine and Pharmacy  Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Seki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Pathology and tumor Biology, Graduate School of Medicine Kyoto University  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seishi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Pathology and tumor Biology, Graduate School of Medicine Kyoto University  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Mizuguchi","sequence":"additional","affiliation":[{"name":"Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine The University of Tokyo  Kyoto Japan"},{"name":"Department of Pediatrics, Graduate School of Medicine The University of Tokyo  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-27"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-014-0463-8"},{"key":"e_1_2_9_4_1","first-page":"277","article-title":"Oral manifestations in Ellis\u2010van Creveld syndrome: report of five cases","volume":"26","author":"Cahuana A","year":"2004","journal-title":"Pediatr 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