title: [Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris].
abstract: OBJECTIVE
  To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.
  
  
  METHODS
  All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.
  
  
  RESULTS
  Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.
  
  
  CONCLUSIONS
  The c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.
authors: Department of Dermatology, The First Affiliated Hospital of Xiamen University, The First Hospital of Xiamen, The Teaching Hospital of Fujian Medical University, Xiamen, Fujian 361003, China; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, China; Department of Dermatology, Inner Mongolia People's Hospital, Hohhot, Inner Mongolia 010017, China. Email: clq196806@126.com.
authors: Qiguo
authors: Q
authors: Zhang
authors: Yao
authors: Y
authors: Yang
authors: Liangqi
authors: L
authors: Cai
authors: Yijin
authors: Y
authors: Huang
authors: Yan
authors: Y
authors: Duan
authors: Yanhua
authors: Y
authors: Liang
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000208:ethnology / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins