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

Détails

ID Serval
serval:BIB_EDE140E90FF9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
Périodique
Ophthalmic Genetics
Auteur⸱e⸱s
Nichini  O., Manzi  V., Munier  F. L., Schorderet  D. F.
ISSN
1381-6810 (Print)
Statut éditorial
Publié
Date de publication
12/2005
Volume
26
Numéro
4
Pages
169-73
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Résumé
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.
Mots-clé
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
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 16:15
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