title: [Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families].
abstract: OBJECTIVE
  To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families.
  
  
  METHODS
  Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations.
  
  
  RESULTS
  Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported.
  
  
  CONCLUSIONS
  Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.
authors.affiliation: Department of Prosthodontics, Peking University School of Stomatology, Beijing 100081, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Hongshan
authors.initials: H
authors.lastname: Zhao
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Zhang
authors.forename: Hailan
authors.initials: H
authors.lastname: Feng
mesh_terms: D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins