title: A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy.
abstract: BACKGROUND
  Mutation of the human transforming growth factor beta-induced (TGFBI) gene causes granular corneal dystrophy (GCD) in various ethnic groups. In this report, we identify the genetic defect on the TGFBI gene in a Vietnamese family with atypical GCD .
  
  
  METHODS
  The patient and her relatives were examined clinically. Genomic DNA was extracted from blood leukocytes. Fifty normal Vietnamese were used as controls. Analysis of the TGFBI gene was performed using polymerase chain reaction and direct sequencing.
  
  
  METHODS
  The 42-year-old proband clinically showed multiple white dot-like opacities scattered in the anterior and mid-stroma of the central cornea. Unlike GCD, these deposits were smaller, localized deeper and less severe. DNA analysis revealed a nucleotide transversion at codon 123 (GAC --> CAC), causing Asp --> His substitution (D123H). This mutation was also detected in 3 out of 5 unaffected family members, but was absent in the 50 normal controls.
  
  
  CONCLUSIONS
  The novel D123H mutation of the TGFBI gene was not co-segregated with GCD in the family studied, and did not exist in the control population. It probably was a disease-causing mutation, thus expected to cause a novel variant of GCD in the proband. The detection of the D123H mutation in three unaffected family members indicates that it has low penetrance for GCD.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Nguyen Thanh
authors.initials: NT
authors.lastname: Ha
authors.forename: Le Xuan
authors.initials: le X
authors.lastname: Cung
authors.forename: Hoang Minh
authors.initials: HM
authors.lastname: Chau
authors.forename: Ton Kim
authors.initials: TK
authors.lastname: Thanh
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: D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics; D014744:Vietnam / Q000453:epidemiology; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein