title: A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.
abstract: BACKGROUND
  Dowling-Degos disease (DDD; MIM 179850) is an autosomal dominant genodermatosis caused by mutations in keratin 5 gene (KRT5). KRT5 is specifically expressed in basal layer of epidermis and plays an important role in protecting epithelial cells from mechanical and non-mechanical stresses.
  
  
  OBJECTIVE
  We analysed the molecular basis of DDD in a Chinese family.
  
  
  METHODS
  Genomic DNA of the Chinese DDD family and a matched control cohort was isolated according to standard techniques. All exons of the KRT5 gene and adjacent exon-intron border sequences were amplified using PCR and directly sequenced.
  
  
  RESULTS
  We identified a novel keratin 5 (K5) nonsense mutation designated c.C10T (p.Gln4X) in exon 1 of the KRT5 gene.
  
  
  CONCLUSIONS
  Our data expand the spectrum of mutations in the KRT5 gene underlying DDD.
authors.affiliation: Children's Hospital, Fudan University, Shanghai, China.
authors.forename: L
authors.initials: L
authors.lastname: Guo
authors.forename: X
authors.initials: X
authors.lastname: Luo
authors.forename: A
authors.initials: A
authors.lastname: Zhao
authors.forename: H
authors.initials: H
authors.lastname: Huang
authors.forename: Z
authors.initials: Z
authors.lastname: Wei
authors.forename: L
authors.initials: L
authors.lastname: Chen
authors.forename: S
authors.initials: S
authors.lastname: Qin
authors.forename: L
authors.initials: L
authors.lastname: Shao
authors.forename: J
authors.initials: J
authors.lastname: Xuan
authors.forename: G
authors.initials: G
authors.lastname: Feng
authors.forename: C
authors.initials: C
authors.lastname: Minghua
authors.forename: J
authors.initials: J
authors.lastname: Luan
authors.forename: L
authors.initials: L
authors.lastname: He
authors.forename: Q
authors.initials: Q
authors.lastname: Xing
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002681:China; D018389:Codon, Nonsense; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007438:Introns; D053555:Keratin-5 / Q000235:genetics*; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; C503940:KRT5 protein, human; D053555:Keratin-5