title: Molecular genetics of Chinese families with TGFBI corneal dystrophies.
abstract: OBJECTIVE
  To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2).
  
  
  METHODS
  Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecular genetic analysis was performed on nine patients and fifteen unaffected individuals from these families. All exons of TGFBI were amplified by polymerase chain reaction (PCR) and sequenced.
  
  
  RESULTS
  Morphological changes in the cornea among affected individuals from three Chinese families examined by in vivo LSCM were almost the same. A heterozygous mutation C>T (R555W) was identified in exon 12 of TGFBI in patients of family A with GCD1. Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2.
  
  
  CONCLUSIONS
  Mutations R555W and R124H in TGFBI were identified in three Chinese families with GCD. Even though there are a variety of mutations in TGFBI of GCD, the different subtypes of GCD (GCD1, GCD2, and GCD3) are in fact the same disorder. Our work supports the hypothesis that corneal dystrophies with the common genetic basis in TGFBI should be grouped together as TGFBI corneal dystrophies.
authors.affiliation: Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, PR China.
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Naihong
authors.initials: N
authors.lastname: Yan
authors.forename: Wenhan
authors.initials: W
authors.lastname: Yu
authors.forename: Yun
authors.initials: Y
authors.lastname: Liu
authors.forename: Guo
authors.initials: G
authors.lastname: Liu
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Wu
authors.forename: Jinxian
authors.initials: J
authors.lastname: Lian
authors.forename: Xuyang
authors.initials: X
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology* / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal / Q000379:methods; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1