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We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity.
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RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations.
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KC can co-exist with GCD. The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD.
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we show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression
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Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals.
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We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. The in vivo confocal microscopy examinations revealed previously unreported depth-dependent ultrastructural changes in the living cornea.
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Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy.
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The Leu132Pro missense mutation is within the helix-initiation motif of the keratin and is predicted to result in a significant structural change of the K12 protein.
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The lead siRNA, with an IC(50) of thirty picomolar, showed no keratin off-target effects or activation of TLR3 in the concentration ranges tested.
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Novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann's corneal dystrophy in a German family.
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Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
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A novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
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Mutation in the KRT12 gene is associated with Meesmann corneal dystrophy
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Mutation associated with symptomatic phenotype of Meesmann's corneal dystrophy. Results in substitution of proline for arginine in helix termination motif that may disrupt normal helix, leading to dramatic structural change of keratin 12 protein.
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This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic.
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The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused Meesmann corneal dystrophy (MECD).
