title: A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
abstract: 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.
authors.affiliation: Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA.
authors.forename: M
authors.initials: M
authors.lastname: Galdzicka
authors.forename: S
authors.initials: S
authors.lastname: Patnala
authors.forename: M G
authors.initials: MG
authors.lastname: Hirshman
authors.forename: J-F
authors.initials: JF
authors.lastname: Cai
authors.forename: H
authors.initials: H
authors.lastname: Nitowsky
authors.forename: J A
authors.initials: JA
authors.lastname: Egeland
authors.forename: E I
authors.initials: EI
authors.lastname: Ginns
mesh_terms: D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D007585:Jews; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins