title: A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
abstract: BACKGROUND
  hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder affecting the skin and its derivatives. It is characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. To date, all mutations have been involving in three codons: G11R, A88V and V37E in the connexin 30 (Cx30) gene have been shown to cause this disorder.
  
  
  OBJECTIVE
  in order to analyze the mutations of the Cx30 gene in Chinese Han patients with HED.
  
  
  METHODS
  we collected a large Chinese HED family consisting of a total of 81 individuals including 28 HED patients (14 males and 14 females). The whole coding region of Cx30 was amplified by polymerase chain reaction and products analyzed by direct sequencing, then further confirmed at the mRNA level by RT-PCR.
  
  
  RESULTS
  we detected a transition, 31(G-->A), leading to a missense mutation (G11R) in genomic DNAs of 18 patients, and the point mutation was not found in 16 normal individuals in this HED family and in 188 unrelated, population-match control individuals. The transcription of mutated allele was confirmed by RT-PCR of Cx30 mRNA.
  
  
  CONCLUSIONS
  our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED.
authors.affiliation: Institute of Dermatology, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, P.R. China. ayzxj@mail.hf.ah.cn
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Chen
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Xiong
authors.forename: Ping-Ping
authors.initials: PP
authors.lastname: He
authors.forename: Pu-Lin
authors.initials: PL
authors.lastname: Dong
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Yue-Bin
authors.initials: YB
authors.lastname: Li
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhou
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; D012333:RNA, Messenger; D001120:Arginine; D005998:Glycine