Abstract | 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.
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Authors | Olivia Nichini, Violaine d'Allèves Manzi, Francis L Munier, Daniel F Schorderet |
Journal | Ophthalmic genetics
(Ophthalmic Genet)
Vol. 26
Issue 4
Pg. 169-73
(Dec 2005)
ISSN: 1381-6810 [Print] England |
PMID | 16352477
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- KRT12 protein, human
- KRT3 protein, human
- Keratin-12
- Keratin-3
- Keratins
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Topics |
- Chromatography, High Pressure Liquid
- Corneal Dystrophies, Hereditary
(genetics, pathology, surgery)
- Epithelium, Corneal
(ultrastructure)
- Exons
(genetics)
- Female
- Heterozygote
- Humans
- Keratin-12
- Keratin-3
- Keratins
(genetics)
- Male
- Mutation
(genetics)
- Pedigree
- Polymerase Chain Reaction
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