title: EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
abstract: BACKGROUND
  Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis.
  
  
  METHODS
  The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED.
  
  
  RESULTS
  A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X), thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene.
  
  
  CONCLUSIONS
  The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.
authors.affiliation: Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, SE-901 85 Umeå, Sweden. lisbet.lind@medbio.umu
authors.forename: Lisbet K
authors.initials: LK
authors.lastname: Lind
authors.forename: Christina
authors.initials: C
authors.lastname: Stecksén-Blicks
authors.forename: Kristina
authors.initials: K
authors.lastname: Lejon
authors.forename: Marcus
authors.initials: M
authors.lastname: Schmitt-Egenolf
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004476:Ectodermal Dysplasia / Q000473:pathology*; D053339:Edar Receptor / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007007:Hypohidrosis / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D013548:Sweden
chemical_list: D018389:Codon, Nonsense; C506008:EDAR protein, human; D053339:Edar Receptor