title: TGFBI gene mutations in a Korean population with corneal dystrophy.
abstract: OBJECTIVE
  To investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene.
  
  
  METHODS
  In this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologic evaluation, including biomicroscopic inspection and dilated fundus examination. As a control, 100 individuals without corneal disease were selected from the general population. The polymerase chain reaction (PCR) and direct sequencing were used to screen for mutations in TGFBI.
  
  
  RESULTS
  All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]). The disease showed an autosomal dominant inheritance pattern in all families.
  
  
  CONCLUSIONS
  R124H in GCD2 was the most common mutation. GCD1 and Reis-Bucklers corneal dystrophy were not found. In the GCD2 patients there were a large number of laser refractive surgery-induced corneal opacities. A spontaneous R124H mutation was confirmed in an already mutated allele that resulted in a change from a heterozygous into a homozygous form. Also, a novel mutation, P527R, was identified in LCD.
authors.affiliation: Dankook University Hospital, Department of Ophthalmology, Cheonan, Korea.
authors.forename: Kyong Jin
authors.initials: KJ
authors.lastname: Cho
authors.forename: Jee Won
authors.initials: JW
authors.lastname: Mok
authors.forename: Kyung Sun
authors.initials: KS
authors.lastname: Na
authors.forename: Chang Rae
authors.initials: CR
authors.lastname: Rho
authors.forename: Yong Soo
authors.initials: YS
authors.lastname: Byun
authors.forename: Ho Sik
authors.initials: HS
authors.lastname: Hwang
authors.forename: Kyu Yeon
authors.initials: KY
authors.lastname: Hwang
authors.forename: Choun-Ki
authors.initials: CK
authors.lastname: Joo
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D056910:Republic of Korea / Q000453:epidemiology; D017422:Sequence Analysis, DNA; 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