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

Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Chromosome Mapping
  • Conserved Sequence
  • Ellis-Van Creveld Syndrome / genetics*
  • Exons
  • Female
  • Fishes
  • Genes, Recessive
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Proteins / genetics*
  • Sequence Deletion


  • EVC2 protein, human
  • Intercellular Signaling Peptides and Proteins
  • Proteins

Associated data

  • GENBANK/AF216184
  • GENBANK/AY185210
  • OMIM/189500
  • OMIM/225500