title: 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.
authors.affiliation: Institute of Human Genetics, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
authors.forename: Victor L
authors.initials: VL
authors.lastname: Ruiz-Perez
authors.forename: Stuart W J
authors.initials: SW
authors.lastname: Tompson
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Blair
authors.forename: Cecilia
authors.initials: C
authors.lastname: Espinoza-Valdez
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.forename: Elias O
authors.initials: EO
authors.lastname: Silva
authors.forename: Ben
authors.initials: B
authors.lastname: Hamel
authors.forename: John L
authors.initials: JL
authors.lastname: Gibbs
authors.forename: Ian D
authors.initials: ID
authors.lastname: Young
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Wright
authors.forename: Judith A
authors.initials: JA
authors.lastname: Goodship
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D002874:Chromosome Mapping; D017124:Conserved Sequence; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005091:Exons; D005260:Female; D005399:Fishes; D005808:Genes, Recessive; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins