Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Détails

ID Serval
serval:BIB_911F1DA2003A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
Périodique
Nature Genetics
Auteur⸱e⸱s
Munier  F. L., Korvatska  E., Djemai  A., Le Paslier  D., Zografos  L., Pescia  G., Schorderet  D. F.
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
03/1997
Volume
15
Numéro
3
Pages
247-51
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Résumé
Granular dystrophy Groenouw type I (CDGG1), Reis-Bucklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies. Clinically, they show progressive opacification of the cornea leading to severe visual handicap. The nature of the deposits remains unknown in spite of amyloid aetiology ascribed to the last two. We generated a YAC contig of the linked region and, following cDNA selection, recovered the beta ig-h3 gene. In six affected families we identified missense mutations. All detected mutations occurred at the CpG dinucleotide of two arginine codons: R555W in one CDGG1, R555Q in one CDRB, R124C in two CDL1 and R124H in two ACD families. This suggests, as the last two diseases are characterized by amyloid deposits, that R124 mutated kerato-epithelin (the product of beta ig-h3) forms amyloidogenic intermediates that precipitate in the cornea. Our data establish a common molecular origin for the 5q31-linked corneal dystrophies.
Mots-clé
Alternative Splicing Base Sequence Cells, Cultured Chromosome Mapping Chromosomes, Artificial, Yeast *Chromosomes, Human, Pair 5 Cornea/metabolism Corneal Dystrophies, Hereditary/*genetics DNA Primers Dinucleoside Phosphates Exons *Extracellular Matrix Proteins Genes, Dominant Humans Introns Linkage (Genetics) Molecular Sequence Data Neoplasm Proteins/*genetics *Point Mutation Polymerase Chain Reaction Skin/metabolism *Transforming Growth Factor beta
Pubmed
Web of science
Création de la notice
28/01/2008 12:59
Dernière modification de la notice
20/08/2019 14:54
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