Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
Details
Serval ID
serval:BIB_EDE140E90FF9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
Journal
Ophthalmic Genetics
ISSN
1381-6810 (Print)
Publication state
Published
Issued date
12/2005
Volume
26
Number
4
Pages
169-73
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Research Support, Non-U.S. Gov't --- Old month value: Dec
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.
Keywords
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
Pubmed
Create date
28/01/2008 12:58
Last modification date
20/08/2019 16:15