Jpn J Ophthalmol. 2002 Nov-Dec;46(6):673-4.

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

Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A.

Source

Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.

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.

PMID:: 12543196; [PubMed - indexed for MEDLINE]

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Review The IC3D classification of the corneal dystrophies.
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