title: Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses.
abstract: OBJECTIVE
  To discover if beta ig-h3 is mutated in gelatinous drop-like corneal dystrophy, as has been suggested.
  
  
  METHODS
  Genomic DNA was isolated from unrelated individuals with lattice corneal dystrophy type I (n = 3), Avellino corneal dystrophy (n = 3), and gelatinous drop-like corneal dystrophy (n = 3) and used as a template for polymerase chain reaction to amplify all exons in beta ig-h3. The polymerase chain reaction product was then sequenced.
  
  
  RESULTS
  Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy (Arg124His). In gelatinous drop-like corneal dystrophy, on the other hand, no mutation was detected in the entire coding region of beta ig-h3 (all 17 exons).
  
  
  CONCLUSIONS
  Unlike the amyloidotic corneal dystrophies lattice type I and Avellino, gelatinous drop-like corneal dystrophy is not likely to be caused by a mutation in beta ig-h3.
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Dota
authors.forename: K
authors.initials: K
authors.lastname: Nishida
authors.forename: Y
authors.initials: Y
authors.lastname: Honma
authors.forename: W
authors.initials: W
authors.lastname: Adachi
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: A J
authors.initials: AJ
authors.lastname: Quantock
authors.forename: S
authors.initials: S
authors.lastname: Kinoshita
mesh_terms: D000686:Amyloidosis / Q000235:genetics*; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D006801:Humans; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein