Ophthalmic Genet. 2005 Dec;26(4):169-73.

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

Nichini O, Manzi Vd, Munier FL, Schorderet DF.

Source

IRO-Institut de Recherche en Ophtalmologie, Sion, Switzerland.

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.

PMID:: 16352477; [PubMed - indexed for MEDLINE]

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