title: Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
abstract: BACKGROUND
  Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause.
  
  
  METHODS
  In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE).
  
  
  RESULTS
  All the children had the common clinical and radiological features of this syndrome. However, DNA sequence analysis of the genes shown to be involved (EVC and EVC2) revealed a novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene in one family. In addition, we confirm previous mutational analyses that showed a truncating mutation in exon 13 of EVC gene (c.1813C>T; p.Q605X) in the second family and a single nucleotide deletion (c.981delG; p.K327fs) in exon 8 of EVC2 gene in the third family. No mutations in the exons, splice sites or the promoter regions of either gene have been found in the index case of the fourth family who exhibited "EvC-like" features.
  
  
  CONCLUSIONS
  Given the small population size of UAE, our data illustrates further the molecular heterogeneity observed in EvC patients and excludes the possibility of a common founder effect for this condition in the UAE reflecting the current ethnic diversity of the country.
authors.affiliation: Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates. bassam.ali@uaeu.ac.ae
authors.forename: Bassam R
authors.initials: BR
authors.lastname: Ali
authors.forename: Nadia A
authors.initials: NA
authors.lastname: Akawi
authors.forename: Faris
authors.initials: F
authors.lastname: Chedid
authors.forename: Mahmood
authors.initials: M
authors.lastname: Bakir
authors.forename: Moghis
authors.initials: M
authors.lastname: Ur Rehman
authors.forename: Aiman
authors.initials: A
authors.lastname: Rahmani
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics* / Q000473:pathology*; D005838:Genotype; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D014479:United Arab Emirates
chemical_list: C406058:EVC protein, human; C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins