title: TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.
abstract: OBJECTIVE
  To characterize the molecular defects in the TGFBI gene in a Chinese family with Reis-Bücklers corneal dystrophy (RBCD), and to study the relationship between the gene mutations and the clinical manifestations.
  
  
  METHODS
  Four generations of this family with RBCD were enrolled in the study. In addition to ophthalmic and histopathological examinations, polymerase chain reaction (PCR) amplification and analysis of nucleotide sequencing of exons 4, 12, 14 of TGFBI were performed.
  
  
  RESULTS
  The clinical manifestations of the disease were characterized by geographic opacities in the subepithelial layers and anterior stroma of the cornea. Confocal microscopy images of the cornea showed focal hyper-reflective materials deposited in the subepithelium and anterior stroma. It was confirmed by histopathology that Bowman's membrane was mainly replaced by extracellular fibril material, which extended downwards into the superficial corneal stroma. Molecular genetic analysis revealed a single heterozygous G>T change at nucleotide 124 in exon 4 of TGFBI in all members (22) of the pedigree affected with RBCD, but not in the unaffected members.
  
  
  CONCLUSIONS
  A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy. The phenotype of Reis-Bücklers corneal dystrophy in this family belongs to the geographic type. The molecular genetic studies combined with histopathology may be useful for the accurate diagnosis of this type of corneal dystrophy.
authors: Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
authors: Qingfeng
authors: Q
authors: Liang
authors: Xuguang
authors: X
authors: Sun
authors: Xiuying
authors: X
authors: Jin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein