Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
basic_science · Level V
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- Record sourced from PubMed, PMID 12571802.
- Also identified by PMC identifier 1180248.
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Abstract
Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.
Medical subject headings
- Ellis-Van Creveld Syndrome
- Point Mutation
- Proteins