title: [Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].
abstract: OBJECTIVE
  To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene.
  
  
  METHODS
  Genomic DNA was extracted from Chinese patients with Avellino corneal dystrophy (ACD, 10 cases), Reis-Bücklers corneal dystrophy (CDRB, 2 cases), granular corneal dystrophy (GCD, 3 cases) and 5 control subjects. The exons 4 and 12 of BIGH3 gene were amplified by PCR and the product was sequenced directly.
  
  
  RESULTS
  All 15 patients carried mutations in BIGH3 gene, R124H in 10 cases with ACD, R124L in 2 cases with CDRB and R555W in 3 cases with GCD.
  
  
  CONCLUSIONS
  Corneal lesions in all 15 Chinese patients clinically diagnosed with corneal dystrophies are caused by mutations in BIGH3 gene. Dose-effect analysis shows that corneal lesions are more severe in homozygous patients than those in heterozygous cases and that clinical manifestation of patients with R124L mutation is more severe than that of patients with R124H mutation.
authors.affiliation: Tongren Ophthalmic Center, Capital University of Medical Science, Beijing 100730, China. shixiaojun01@sina.com
authors.forename: Jie
authors.initials: J
authors.lastname: Yu
authors.forename: Liu-he
authors.initials: LH
authors.lastname: Zou
authors.forename: Jiu-cheng
authors.initials: JC
authors.lastname: He
authors.forename: Ning-pu
authors.initials: NP
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Lan
authors.initials: L
authors.lastname: Lu
authors.forename: Xu-guang
authors.initials: XG
authors.lastname: Sun
authors.forename: Dong-sheng
authors.initials: DS
authors.lastname: Dong
authors.forename: Yu-ying
authors.initials: YY
authors.lastname: Wu
authors.forename: Xiao-tang
authors.initials: XT
authors.lastname: Yin
mesh_terms: D000293:Adolescent; D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein