ArticleThe British journal of ophthalmology2000
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
Article in The British journal of ophthalmology, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 76 citations in OpenAlex.
- 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
- Corneal dystrophies.Orphanet journal of rare diseases · 2009Review
- Lens intermediate filaments.Experimental eye research · 2009Review
- 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
- A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.Molecular vision · 2007Article
- Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.The Journal of biological chemistry · 2005Article
- 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.The British journal of ophthalmology · 2004Article
- [Corneal dystrophies and molecular genetics. Results of current research reveal prospects for new therapeutic possibilities].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2002Article
- A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.Japanese journal of ophthalmologyArticle
- Identification of a Novel MissenseCase reports in ophthalmologyArticle
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Authors and funding
7 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study a kindred with Meesmann's corneal dystrophy (MCD) to determine if a mutation within the cornea specific K3 or K12 genes is responsible for the disease phenotype.
methodsSlit lamp examination of the cornea in four members of the kindred was carried out to confirm the diagnosis of MCD. The region encoding the helix initiation motif (HIM) of the K12 polypeptide was polymerase chain reaction (PCR) amplified from genomic DNA derived from affected individuals in the kindred. PCR products generated were subjected to direct automated sequencing. Restriction enzyme analysis employing Ban I was used to confirm the presence of the mutation in affected individuals of the family.
resultsSequencing of the K12 gene in an affected individual from the family revealed a novel heterozygous missense mutation (413A-->C), predicting the substitution of a proline for a glutamine at codon 130 (Q130P) in the HIM of the K12 protein. The mutation was excluded from 50 normal, unaffected individuals by restriction enyzme analysis and was therefore unlikely to be a common polymorphism.
conclusionA novel missense mutation in the K12 gene leads to MCD in a German kindred. Missense mutations have now been identified within the region encoding the helix initiation motif of the K12 protein in eight of 11 MCD kindreds analysed at the molecular level.
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