title: Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
abstract: Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC in autosomal recessive manner. Linkage in the families was established to chromosome 4p16. Subsequently, sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. This further expands the mutations in the EVC or EVC2 genes resulting in the EVC syndrome.
authors.affiliation: aDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University bArmy Medical College, National University of Science & Technology NUST), Islamabad, Pakistan.
authors.forename: Abdul
authors.initials: A
authors.lastname: Aziz
authors.forename: Syed I
authors.initials: SI
authors.lastname: Raza
authors.forename: Salman
authors.initials: S
authors.lastname: Ali
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000328:Adult; D003241:Consanguinity; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D010154:Pakistan; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics
chemical_list: C406058:EVC protein, human; C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins