Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

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.

SUBMITTER: Ruiz-Perez VL 

PROVIDER: S-EPMC1180248 | biostudies-literature | 2003 Mar

REPOSITORIES: biostudies-literature