Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

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.

• 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)

Chemical References

• KRT12 protein, human
• KRT3 protein, human
• Keratin-12
• Keratin-3
• Keratins

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