{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T16:04:22Z","timestamp":1780589062400,"version":"3.54.1"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:00:00Z","timestamp":1683590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ellis\u2013van Creveld (EvC) syndrome, caused by variants in <jats:italic>EVC<\/jats:italic>, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with other diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A Chinese pedigree diagnosed with EvC syndrome was enrolled in this study. Whole\u2010exome sequencing (WES) was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members. Minigene experiments were applied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>WES identified a homozygous variant (NM_153717.3:c.153_174\u2009+\u200942del) in <jats:italic>EVC<\/jats:italic> which was inherited from the heterozygous parents and confirmed by Sanger sequencing. Further experiments demonstrated that this variant disrupts the canonical splicing site and produces a new splicing site at NM_153717.3: c.\u2010164_174del, which ultimately leads to a 337\u2009bp deletion at the 3\u2032 end of exon 1 and loss of the start codon.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first reported case of EvC syndrome based on a splicing variant and detailed delineation of the aberrant splicing effect in the fetus. Our study demonstrates the pathogenesis of this new variant, expands the spectrum of <jats:italic>EVC<\/jats:italic> mutations, and demonstrates that WES is a powerful tool in the clinical diagnosis of diseases with genetic heterogeneity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2183","type":"journal-article","created":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T07:02:47Z","timestamp":1683615767000},"source":"Crossref","is-referenced-by-count":8,"title":["A homozygous <scp><i>EVC<\/i><\/scp> mutation in a prenatal fetus with Ellis\u2013van Creveld syndrome"],"prefix":"10.1002","volume":"11","author":[{"given":"Jie","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL) Inner Mongolia University  Hohhot 010070 China"},{"name":"Department of Genetics Inner Mongolia Maternity and Child Health Care Hospital  Hohhot 010010 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