title: [Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
abstract: OBJECTIVE
  To identify the mutation of the TGFBI gene in Chinese patients with Reis-Bücklers corneal dystrophy, and to study the relationship between the gene mutation and the clinical appearance.
  
  
  METHODS
  Ten patients and 2 unaffected family members from 2 unrelated families with corneal dystrophy were studied. Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction for direct sequencing.
  
  
  RESULTS
  Both pedigrees showed an autosomal dominant inheritance. The clinical appearance of the cornea consisted of fine granular, subepithelial opacities which spread and become confluent with time, and resembled geographic type of Reis-Bücklers corneal dystrophy. Direct sequencing of all affected members revealed a G-to-T transition at codon 124 (CGC to CTC), producing R124L mutation of TGFBI gene.
  
  
  CONCLUSIONS
  R124L mutation of the TGFBI gene is found in two Chinese families with Reis-Bücklers corneal dystrophy. The phenotype of Reis-Bücklers corneal dystrophy in both families belongs to the geographic type. Molecular genetic approach may be useful for the proper diagnosis of this type of corneal dystrophy.
authors.affiliation: Department of Ophthalmology, Third Hospital, Peking University, Beijing 100083, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Tian
authors.forename: Zu-guo
authors.initials: ZG
authors.lastname: Liu
authors.forename: Qin
authors.initials: Q
authors.lastname: Li
authors.forename: Bing
authors.initials: B
authors.lastname: Li
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Pei-ying
authors.initials: PY
authors.lastname: Xie
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point 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