title: [Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].
abstract: OBJECTIVE
  To identify the mutations of BIGH3 gene in Chinese patients with corneal dystrophies.
  
  
  METHODS
  Polymerase chain reaction in exon 4, exon 12 and direct DNA sequencing of BIGH3 gene were performed in fifteen patients with corneal dystrophies and ten normal individuals as controls.
  
  
  RESULTS
  Mutations in BIGH3 gene were detected in all the patients with corneal dystrophies. BIGH3 gene mutations were not found in normal subjects. Twelve patients with Avellino corneal dystrophy had the missense mutation R124H in the BIGH3 gene. Three patients with granular corneal dystrophy had the missense mutation R555W in the BIGH3 gene.
  
  
  CONCLUSIONS
  R124H and R555W mutations in BIGH3 gene were found in the patients with Avellino and granular corneal dystrophies. Avellino corneal dystrophy associated with the R124H mutation is the most common form in the corneal dystrophies resulting from BIGH3 gene mutations. Condons 124 and 555 are also the hot spots for the mutations in the BIGH3 gene in the Chinese patients with corneal dystrophies.
authors.affiliation: Department of Ophthalmology, Affiliated Tongren Hospital, Capital Medical University, Beijing, PR China. jtlh01@yahoo.com.cn
authors.forename: Tao
authors.initials: T
authors.lastname: Jin
authors.forename: Liu-he
authors.initials: LH
authors.lastname: Zou
authors.forename: Ling
authors.initials: L
authors.lastname: Yang
authors.forename: Wei-li
authors.initials: WL
authors.lastname: Dong
authors.forename: Jie
authors.initials: J
authors.lastname: Yu
authors.forename: Lan
authors.initials: L
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein