RGD Reference Report - Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. - Rat Genome Database

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

Authors: Munier, FL  Korvatska, E  Djemai, A  Le Paslier, D  Zografos, L  Pescia, G  Schorderet, DF 
Citation: Munier FL, etal., Nat Genet. 1997 Mar;15(3):247-51.
RGD ID: 1599387
Pubmed: PMID:9054935   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0397-247   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
corneal dystrophy  IAGP 1599387granular dystrophy Groenouw type I more ...RGD 
corneal dystrophy  ISOTGFBI (Homo sapiens)1599387; 1599387granular dystrophy Groenouw type I more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tgfbi  (transforming growth factor, beta induced)

Genes (Mus musculus)
Tgfbi  (transforming growth factor, beta induced)

Genes (Homo sapiens)
TGFBI  (transforming growth factor beta induced)


Additional Information