Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy

Jpn J Ophthalmol. 2002 Nov-Dec;46(6):673-4. doi: 10.1016/s0021-5155(02)00563-4.

Abstract

Purpose: 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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Substitution / genetics
  • Corneal Dystrophies, Hereditary / ethnology
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / pathology
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Japan / epidemiology
  • Keratins / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • Keratins