ArticleJapanese journal of ophthalmology
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
Article in Japanese journal of ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- A Novel Pathogenic Variant in theJournal of clinical medicine · 2025Article
- In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.Japanese journal of ophthalmology · 2019Article
- Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.Molecular vision · 2015Article
- The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype.Molecular vision · 2011Article
- Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.Molecular vision · 2010Article
- Identification of a Novel MissenseCase reports in ophthalmologyArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report a novel mutation in the keratin 12 gene (KRT12) found in a Japanese family in association with Meesmann corneal dystrophy (MECD).
methodsAfter informed consent was obtained, genomic DNA was extracted from the leukocytes of the peripheral blood of the proband, her affected father, normal mother, and 50 normal unrelated volunteers. Exons 1-8 of the KRT12 gene were amplified by polymerase chain reaction and directly sequenced.
resultsA novel heterozygous T to G transversion at the second nucleotide position of codon 433 (CTG>CGG), resulting in the replacement of leucine by arginine at codon 433 of the KRT12 gene (L433R), was detected in the proband and her affected father but not in her normal mother or the 50 controls.
conclusionsThe novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused MECD.
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