title: Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
abstract: BACKGROUND
  Hypodontia, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency. Heterozygous female carriers tend to have mild to moderate XLHED phenotype, even though 30% of them present no obvious symptom.
  
  
  METHODS
  A large Chinese XLHED family was reported and the entire coding region and exon-intron boundaries of EDA gene were sequenced. To elucidate the mechanism for carriers' tempered phenotype, we analyzed the methylation level on four sites of the promoter of EDA by the pyrosequencing system.
  
  
  RESULTS
  A known frameshift mutation (c.573-574 insT) was found in this pedigree. Combined with the pedigrees we reported before, 120 samples comprised of 23 carrier females from 11 families and 97 healthy females were analyzed for the methylation state of EDA promoter. Within 95% confidence interval (CI), 18 (78.26%) carriers were hypermethylated at these 4 sites.
  
  
  CONCLUSIONS
  Chinese XLHED carriers often have a hypermethylated EDA promoter.
authors.affiliation: The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST), School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Yin
authors.forename: Xiaoqian
authors.initials: X
authors.lastname: Ye
authors.forename: Huali
authors.initials: H
authors.lastname: Fan
authors.forename: Zhuan
authors.initials: Z
authors.lastname: Bian
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D019175:DNA Methylation; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011401:Promoter Regions, Genetic
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins