title: [Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].
abstract: OBJECTIVE
  To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.
  
  
  RESULTS
  A c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.
  
  
  CONCLUSIONS
  A c.467G>A mutation of the EDA gene probably underlies the disease in the family.
authors.affiliation: West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan 610041, P. R. China.
authors.forename: Mingyang
authors.initials: M
authors.lastname: Li
authors.forename: He
authors.initials: H
authors.lastname: Yuan
authors.forename: Jiyao
authors.initials: J
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D002648:Child; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins