title: [Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].
abstract: OBJECTIVE
  To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia
  
  
  METHODS
  Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.
  
  
  RESULTS
  Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.
  
  
  CONCLUSIONS
  The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.
authors.affiliation: Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Diseases, Ministry of Education and Anhui Province, Hefei 230032, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.forename: Cheng
authors.initials: C
authors.lastname: Quan
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
authors.forename: Wen-Sheng
authors.initials: WS
authors.lastname: Lu
authors.forename: Yu-Jun
authors.initials: YJ
authors.lastname: Shen
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D010375:Pedigree
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins