Meesmann corneal dystrophy (MECD): Report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
Ophthalmic Genetics, ISSN: 1381-6810, Vol: 26, Issue: 4, Page: 169-173
2005
- 18Citations
- 8Captures
- 3Mentions
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Metrics Details
- Citations18
- Citation Indexes18
- 18
- CrossRef5
- Captures8
- Readers8
- Mentions3
- References2
- 2
- News Mentions1
- 1
Most Recent News
Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy
ABSTRACT Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in
Article Description
Purpose: Meesmann corneal dystrophy (MECD) is an autosomal dominant disorder affecting the corneal epithelium. It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These genes were screened in several patients suffering from MECD. Methods: Patients from 2 families were screened for mutation in KRT3 and KRT12. Exons were PCR-amplified and directly sequenced. The new mutation was checked by DHPLC in 51 control individuals of Swiss origin. Results/Conclusions: In one family, the M129T heterozygous mutation was observed in KRT12. In the second family, we identified a novel I426S heterozygous mutation in exon 6 of KRT12. Copyright © Taylor and Francis Inc.
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