Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
SourceAmerican Journal of Human Genetics, 72, 3, (2003), pp. 728-732
Article / Letter to editor
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American Journal of Human Genetics
SubjectUMCN 5.1: Genetic defects of metabolism
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.
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