title: [Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].
abstract: OBJECTIVE
  To investigate the gene mutation in one sporadic case of bullous congenital ichthyosiform erythroderma (BCIE), and to explore the relationship between the genotype and phenotype.
  
  
  METHODS
  DNA was extracted from the blood samples of the patient with BCIE, unaffected members of the pedigree, and 50 unrelated healthy controls. PCR was used to amplify the hot spot fragment of keratin 1 (KRT1) and keratin 10 (KRT10) gene. The PCR products were directly sequenced to detect the mutations.
  
  
  RESULTS
  A heterozygous 467G>A mutation was found in the patient, resulting in the substitution of arginine (R) by histidine (H) in codon 156 (R156H) in the 1A domain of the KRT10 protein but not in the healthy individuals from the family and the 50 unrelated individuals.
  
  
  CONCLUSIONS
  The mutation of 467G>A in exon 1 of KRT10 gene identified may play a major role in the pathogenic mechanism of this case of BCIE.
authors.affiliation: Department of Dermatology, Union Hospital, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Shi-de
authors.initials: SD
authors.lastname: Zhang
authors.forename: Jing-jing
authors.initials: JJ
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Tian
authors.forename: Zheng-juan
authors.initials: ZJ
authors.lastname: Zhao
authors.forename: Jing-jun
authors.initials: JJ
authors.lastname: Zhao
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D053550:Keratin-10 / Q000235:genetics*; D009154:Mutation
chemical_list: C507493:KRT10 protein, human; D053550:Keratin-10