title: [Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris].
abstract: OBJECTIVE
  To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population.
  
  
  METHODS
  PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls.
  
  
  RESULTS
  Three mutations (3321delA, 5757delCCAG and S2706X) were identified in 7 families. A homozygous mutation 3321delA was also detected in two unrelated patients. No mutations were found in the remaining three families. Neither of the null mutations (5757delCCAG and S2706X) was found in the 100 controls. However, for 3321delA, a heterozygous mutation was also found in two of the controls.
  
  
  CONCLUSIONS
  Three FLG mutations have been identified in the selected families with ichthyosis vulgaris, and the 3321delA mutation was most prevalent (46.9%). Mutations 5757delCCAG and S2706X were first found in patients with ichthyosis vulgaris. Other candidate genes may underlie the disease in those without a FLG mutation.
authors.affiliation: Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, Jiangsu 214023, P.R. China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Gu
authors.forename: Minhua
authors.initials: M
authors.lastname: Shao
authors.forename: Xufeng
authors.initials: X
authors.lastname: Du
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Hejian
authors.initials: H
authors.lastname: Shi
authors.forename: Guolong
authors.initials: G
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D001483:Base Sequence; D002681:China; D005260:Female; D000091344:Filaggrin Proteins; D005838:Genotype; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins