title: Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
abstract: OBJECTIVE
  To report the molecular genetic analysis of a Japanese pedigree with Meesmann's corneal dystrophy (MCD).
  
  
  METHODS
  Sequencing of the keratin 3 and keratin 12 genes was performed in 2 patients who were siblings and in an unaffected individual in the same family. The patients had the typical corneal microcysts and recurrent erosions with mild photophobia.
  
  
  RESULTS
  A novel mutation resulting in the substitution of alanine to proline in codon 137 of the keratin 12 gene (Ala137Pro) was found in the 2 patients, but not in the unaffected member of the family and the 50 controls.
  
  
  CONCLUSIONS
  This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Kozo
authors.initials: K
authors.lastname: Takahashi
authors.forename: Kenzo
authors.initials: K
authors.lastname: Takahashi
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Shigekuni
authors.initials: S
authors.lastname: Okisaka
authors.forename: Tairou
authors.initials: T
authors.lastname: Kimura
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007633:Keratins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007633:Keratins