ArticleHuman genetics2006
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 48 citations in OpenAlex.
- A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.BMC medical genomics · 2026Article
- Identification of a NovelGenes · 2025Article
- Evaluating regional heritability mapping methods for identifying QTLs in a wild population of Soay sheep.Heredity · 2025Article
- The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novelHeliyon · 2024Article
- Weyers Acrofacial Dysostosis: A Case Report.Cureus · 2024Article
- Establishing an objective clinical spectrum, genotype-phenotype correlations, andGenetics in medicine open · 2023Review
- Primary cilia in hard tissue development and diseases.Frontiers of medicine · 2021Review
- Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novelClinical case reports · 2020Article
- A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.European journal of human genetics : EJHG · 2018Article
- Review
- Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Human mutation · 2018Article
- Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.Developmental cell · 2017Article
- Role of Primary Cilia in Odontogenesis.Journal of dental research · 2017Review
- Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis.Journal of pediatric genetics · 2016Review
- Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.PLoS genetics · 2016Article
- Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.Anatomical record (Hoboken, N.J. : 2007) · 2016Article
- Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Molecular genetics and genomics : MGG · 2016Article
- ANPJ genomic medicine · 2016Article
- Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome.Disease models & mechanisms · 2015Article
- EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.Developmental cell · 2014Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Weyers acrofacial dysostosis (MIM 193530) is an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy and dysplastic teeth. Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive disorder with a similar, but more severe phenotype. Mutations in the EVC have been identified in both syndromes. However, the EVC mutations only occur in a small proportion of EvC patients. Recently, mutations in a new gene, EVC2, were found to be associated with other EvC cases. The EVC and EVC2 are located close to each other in a head-to-head configuration and may be functionally related. In this study, we report identification of a novel heterozygous deletion in the EVC2 that is responsible for autosomal dominant Weyers acrofacial dysostosis in a large Chinese family. This constitutes the first report of Weyers acrofacial dysostosis caused by this gene. Hence, the spectrum of malformation syndromes due to EVC2 mutations is further extended. Our data provides conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions.
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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.