title: An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.
abstract: OBJECTIVE
  To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan.
  
  
  METHODS
  Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing.
  
  
  RESULTS
  In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%).
  
  
  CONCLUSIONS
  Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.
authors.affiliation: Department of Ophthalmology, Kyushu University Graduate School of Medicine, Fukuoka, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Yoshida
authors.forename: Yuji
authors.initials: Y
authors.lastname: Kumano
authors.forename: Ayako
authors.initials: A
authors.lastname: Yoshida
authors.forename: Toshio
authors.initials: T
authors.lastname: Hisatomi
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Matsui
authors.forename: Teruo
authors.initials: T
authors.lastname: Nishida
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Ishibashi
authors.forename: Takao
authors.initials: T
authors.lastname: Matsui
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; 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