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

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.