title: Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.
abstract: OBJECTIVE
  To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.
  
  
  METHODS
  The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed.
  
  
  RESULTS
  A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified.
  
  
  CONCLUSIONS
  The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.
authors.affiliation: Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK. p.liskova@ucl.ac.uk
authors.forename: Petra
authors.initials: P
authors.lastname: Liskova
authors.forename: Gordon K
authors.initials: GK
authors.lastname: Klintworth
authors.forename: Brandy L
authors.initials: BL
authors.lastname: Bowling
authors.forename: Martin
authors.initials: M
authors.lastname: Filipec
authors.forename: Katerina
authors.initials: K
authors.lastname: Jirsova
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Tuft
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: Neil D
authors.initials: ND
authors.lastname: Ebenezer
mesh_terms: D000328:Adult; D000682:Amyloid / Q000378:metabolism; D002386:Cataract / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003315:Cornea / Q000378:metabolism / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D018153:Czech Republic; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006639:Histidine; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011392:Proline; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D000682:Amyloid; D016326:Extracellular Matrix Proteins; D006639:Histidine; D011392:Proline; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein