ArticleMolecular genetics & genomic medicine2023
A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Cesarean delivery in a pregnant woman with Ellis-van Creveld syndrome: a case report.BMC pregnancy and childbirth · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Identification of EVC variants and the preimplantation genetic testing in a Chinese family.Frontiers in medicine · 2026Article
- Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.Journal of family medicine and primary care · 2025Article
- Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of theMolecular syndromology · 2025Article
- A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2023Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundEllis-van Creveld (EvC) syndrome, caused by variants in EVC, 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.
methodsA Chinese pedigree diagnosed with EvC syndrome was enrolled in this study. Whole-exome 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.
resultsWES identified a homozygous variant (NM_153717.3:c.153_174 + 42del) in EVC 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.-164_174del, which ultimately leads to a 337 bp deletion at the 3' end of exon 1 and loss of the start codon.
conclusionThis 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 EVC mutations, and demonstrates that WES is a powerful tool in the clinical diagnosis of diseases with genetic heterogeneity.
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