Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
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.
Takahashi
Kozo
K
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Takahashi
Kenzo
K
Murakami
Akira
A
Okisaka
Shigekuni
S
Kimura
Tairou
T
Kanai
Atsushi
A
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
D007633:Keratins