Kerato-epithelin mutations in four 5q31-linked corneal dystrophies View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-03

AUTHORS

Francis L. Munier, Elena Korvatska, Assia Djemaï, Denis Le Paslier, Leonidas Zografos, Graziano Pescia, Daniel F. Schorderet

ABSTRACT

Granular dystrophy Groenouw type I (CDGG1), Reis-Bücklers (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 βig-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 βig-h3) forms amyloidogenic intermediates that precipitate in the cornea. Our data establish a common molecular origin for the 5q31-linked corneal dystrophies. More... »

PAGES

247-251

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0397-247

DOI

http://dx.doi.org/10.1038/ng0397-247

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051836912

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9054935


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