ArticleThe British journal of ophthalmology2004
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.
Article in The British journal of ophthalmology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 66 citations in OpenAlex.
- Secondary corneal amyloidosis in a patient with Meesmann corneal dystrophy.Japanese journal of ophthalmology · 2026Article
- 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
- Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.Molecular vision · 2010Article
- The IC3D classification of the corneal dystrophies.Cornea · 2008Review
- Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.Molecular vision · 2008Article
- Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.Investigative ophthalmology & visual science · 2007Article
- A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.Molecular vision · 2007Article
- Identification of a Novel MissenseCase reports in ophthalmologyArticle
- A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.Japanese journal of ophthalmologyArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo determine the disease causing gene defects in two patients with Meesmann's corneal dystrophy.
methodsMutational analysis of domains 1A and 2B of the keratin 3 (K3) and keratin 12 (K12) genes from two patients with Meesmann's corneal dystrophy was performed by polymerase chain reaction amplification and direct sequencing.
resultsNovel mutations of the K12 gene were identified in both patients. In one patient a heterozygous point mutation (429A-->C = Arg135Ser) was found in the 1A domain of the K12 gene. This mutation was confirmed by restriction digestion. In the second patient a heterozygous 27 bp duplication was found inserted in the 2B domain at nucleotide position 1222 (1222ins27) of the K12 gene. This mutation was confirmed by gel electrophoresis. The mutations were not present in unaffected controls.
conclusionNovel K12 mutations were linked to Meesmann's corneal dystrophy in two different patients. A missense mutation replacing a highly conserved arginine residue in the beginning of the helix initiation motif was found in one patient, and an insertion mutation, consisting of a duplication of 27 nucleotides, was found before the helix termination motif in the other.
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