title: A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
abstract: BACKGROUND
  Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by skeletal, ectodermal and cardiac defects. This syndrome is caused by mutations in EVC and EVC2 genes, which are separated by 2.6 kb of genomic sequence on chromosome 4p16.
  
  
  METHODS
  In the present study we ascertained a four-generation pedigree of Pakistani origin with features of EVC. Linkage was searched by genotyping microsatellite markers linked to chromosome 4p16. Affected individuals showed homozygosity to the microsatellite markers tightly linked to EVC and EVC2 genes on chromosome 4p16. It was then subjected to direct sequencing of the EVC and EVC2 genes.
  
  
  RESULTS
  Mutation analysis of the EVC and EVC2 genes identified a novel missense change (c.617G>A; p.S206N) in the EVC gene.
  
  
  CONCLUSIONS
  We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.lastname: Umm-E-Kalsoom
authors.forename: Naveed
authors.initials: N
authors.lastname: Wasif
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D020125:Mutation, Missense; D010154:Pakistan; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: C406058:EVC protein, human; D008565:Membrane Proteins; D011506:Proteins