title: A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
abstract: BACKGROUND
  Hidrotic ectodermal dysplasia (HED), also named as Clouston syndrome, is a rare autosomal dominant disease. Mutations in GJB6, GJB2 and GJA1 are related to HED.
  
  
  OBJECTIVE
  Summarize the clinical feature and analyse the mutation of the GJB6 gene in a large Chinese family with HED.
  
  
  METHODS
  We collected a very large Chinese family with HED. Clinical information was analysed. Blood samples were obtained. The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced. The results were further confirmed at mRNA level by reverse transcription polymerase chain reaction.
  
  
  RESULTS
  Sequence analysis identified a heterozygous missense mutation c.263C>T (p.A88V) in genomic DNAs of 25 patients, and this mutation was excluded from 14 normal individuals in this HED family and 218 unrelated, population-matched control individuals. The transcription of mutated allele was confirmed by RT-PCR of Cx30 mRNA from proband(,) s scalp skin. We found a novel phenotype of this variant in this Chinese HED family.
  
  
  CONCLUSIONS
  Our data reveals that a recurrent mutation p.A88V in GJB6 played a pathogenic role in a large Chinese family and emphasizes the importance of gene test in this congenital disorder.
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: R
authors.initials: R
authors.lastname: Yang
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: Zl
authors.initials: Z
authors.lastname: Hu
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: Qt
authors.initials: Q
authors.lastname: Kong
authors.affiliation: Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: Ww
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: Ll
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: X
authors.initials: X
authors.lastname: Du
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: Sy
authors.initials: S
authors.lastname: Huang
authors.affiliation: Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: Xy
authors.initials: X
authors.lastname: Xia
authors.affiliation: Department of Dermatology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China.
authors.forename: H
authors.initials: H
authors.lastname: Sang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002681:China; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human