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V. Yellore, S.A. Rayner, A.H. Principe, A.J. Aldave; Meesmann’s Corneal Dystrophy Associated With a Novel Mutation (Leu132Val) in the Helix Initiation Motif of KRT12 . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5549.
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To report a novel mutation in the KRT12 gene associated with Meesmann’s corneal dystrophy (MCD).
Slit lamp examination of a 35–year–old male diagnosed with MCD and an unaffected sibling was performed. DNA was collected from both the affected proband and his unaffected sibling to screen for mutations in the KRT3 and KRT12 genes.
Mutation analysis of the KRT12 gene demonstrated two missense changes, Pro15Ser (a previously identified polymorphism, rs11650915) and Leu132Val, in the proband. The Leu132Val missense change was not found in an unaffected sibling or 100 control chromosomes.
We report a novel mutation, Leu132Val, in the highly conserved helix initiation motif of the KRT12 gene associated with MCD.
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