Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | |
Therapies under research |
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Further information |
References
- Allen EH, Courtney DG, Atkinson SD, et al. Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Hum Mol Genet. 2016;25(6):1176-1191
- Herrmann H, Aebi U. Intermediate Filaments: Structure and Assembly. Cold Spring Harb Perspect Biol. 2016 Nov 1;8(11):a018242
- Irvine AD, Corden LD, Swensson O, et al. Mutations in cornea-specific keratins K3 or K12 cause Meesmann’s corneal dystrophy. Nat Genet. 1997;16: 184–187
- Irvine AD, Coleman CM, Moore JE, et al. A novel mutation in KRT12 associated with Meesmann’s epithelial corneal dystrophy. Br J Ophthalmol. 2002;86: 729–732
- Chen JL, Lin BR, Gee KM, et al. Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. Mol Vis. 2015;21:1378-1386
- Liao H, Irvine AD, Macewen CJ, et al. Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One. 2011;6(12):e28582
- Courtney DG, Moore JE, Atkinson SD, Maurizi E, Allen EH, Pedrioli DM, McLean WH, Nesbit MA, Moore CB. CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting. Gene Ther. 2016 Jan;23(1):108-12