A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

M. Galdzicka, S. Patnala, M. G. Hirshman, J. F. Cai, H. Nitowsky, J. A Egeland, Edward I. Ginns

Research output: Contribution to journalArticlepeer-review

88 Scopus citations


Ellis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified mutations in the EVC gene located on chromosome 4p16 have only accounted for illness in a small proportion of affected individuals. In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome. Our findings demonstrate for the first time that the heterogeneity observed in this disorder is not solely the result of mutations in a single gene.

Original languageEnglish (US)
Pages (from-to)291-295
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number4
StatePublished - 2002


  • Atrial-septal defect
  • Bone abnormalities
  • Chromosome 4p16
  • Dwarfism
  • Ectodermal dysplasia
  • Ellis-van Creveld
  • EvC
  • EVC2
  • Genes in development
  • Mendelian inheritance
  • Mutation detection

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism


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