ArticleHuman genetics2007
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 120 citations in OpenAlex.
- Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2019Trial
- Neural crest-specific disruption of Evc2 provides an animal model to study the temporomandibular joint development and homeostasis in response to jaw loading.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of theMolecular syndromology · 2025Article
- Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.Case reports in dentistry · 2025Article
- A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2023Article
- Identification of Compound HeterozygousGenes · 2023Article
- Establishing an objective clinical spectrum, genotype-phenotype correlations, andGenetics in medicine open · 2023Review
- Article
- Ellis-van Creveld Syndrome 2 With Novel Partial Exon 11 Deletion: A Case From Saudi Arabia.Cureus · 2021Article
- Ellis-van Creveld syndrome novel pathogenic variant in theClinical case reports · 2021Article
- Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.Journal of developmental biology · 2020Review
- Skeletal ciliopathies: a pattern recognition approach.Japanese journal of radiology · 2020Review
- Genome wide association and gene enrichment analysis reveal membrane anchoring and structural proteins associated with meat quality in beef.BMC genomics · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
- Article
- Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.PLoS genetics · 2016Article
- Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Molecular genetics and genomics : MGG · 2016Article
- Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation.Genesis (New York, N.Y. : 2000) · 2015Article
- Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.Human molecular genetics · 2015Article
- Ellis-van Creveld Syndrome with Sagittal Craniosynostosis.Craniomaxillofacial trauma & reconstruction · 2015Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ellis-van Creveld syndrome (EvC) is caused by mutations in EVC and EVC2, genes in a divergent orientation separated by only 2.6 kb. We systematically sought mutations in both genes in a panel of 65 affected individuals to assess the proportion of cases resulting from mutations in each gene. We PCR amplified and sequenced the coding exons of both genes. We investigated mutations that could affect splicing by in vitro splicing assays and cDNA analysis. We have identified EVC mutations in 20 cases (31%); in all of these we have detected the mutation on each allele. We have identified EVC2 mutations in 25 cases (38%); in 22 of these we have isolated a mutation on each allele. The majority of the mutations introduce a premature termination codon. We sequenced the region between the two genes in 10 of the 20 cases in which we had not identified a mutation in either gene, revealing only one SNP that was not a common polymorphism. As we have not identified mutations in either gene in 20 cases (31%) it is possible that there is further genetic heterogeneity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.