title: [Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia].
abstract: OBJECTIVE
  To identify potential mutation of ectodysplasin A (EDA) gene in a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia.
  
  
  METHODS
  Blood samples were collected from the affected male proband, his family members and 103 unrelated individuals. Following extraction of genomic DNA, coding sequence of the EDA gene was amplified with PCR, and DNA sequencing was performed to detect potential mutation.
  
  
  RESULTS
  A novel missense mutation, c.822G>T (p.W274C), was identified in exon 7 of the EDA gene in the proband, whilst his mother was found to be a heterozygous carrier. The same mutation was also found in 5 other family members including one affected male and four females, but was absent in unaffected males and 103 unrelated individuals.
  
  
  CONCLUSIONS
  A c.822G>T mutation in exon 7 of the EDA gene probably underlies the disease in this Chinese family.
authors.affiliation: Department of Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, Jiangsu 210029, P.R. China.
authors.forename: Xueping
authors.initials: X
authors.lastname: Sun
authors.forename: Jiandong
authors.initials: J
authors.lastname: Shen
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.forename: Jiazi
authors.initials: J
authors.lastname: Xie
authors.forename: Chao
authors.initials: C
authors.lastname: Gao
authors.forename: Lianju
authors.initials: L
authors.lastname: Qin
authors.forename: Yugui
authors.initials: Y
authors.lastname: Cui
authors.forename: Jiayin
authors.initials: J
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis* / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins