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

To report the molecular genetic analysis of a Japanese pedigree with Meesmann's corneal dystrophy (MCD). 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 microc...

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Bibliographic Details
Published in:	Japanese journal of ophthalmology Vol. 46; no. 6; p. 673
Main Authors:	Takahashi, Kozo, Takahashi, Kenzo, Murakami, Akira, Okisaka, Shigekuni, Kimura, Tairou, Kanai, Atsushi
Format:	Journal Article
Language:	English
Published:	Japan 01-11-2002
Subjects:	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 Japan
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Summary:	To report the molecular genetic analysis of a Japanese pedigree with Meesmann's corneal dystrophy (MCD). 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. 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. This novel mutation (Ala137Pro) of the keratin 12 gene found in a Japanese family had caused MCD.
ISSN:	0021-5155
DOI:	10.1016/S0021-5155(02)00563-4