Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.
OBJECTIVE
Recently several autosomal dominant corneal stromal dystrophies have been mapped to chromosome 5q. Therefore, we tested whether Reis-Bücklers' corneal dystrophy, an autosomal dominant trait, was also linked to the same region.


METHODS
Five generations of a single family with Reis-Bücklers' corneal dystrophy were ascertained. Twenty-two family members were examined, and 11 were found to be affected. Blood was obtained for genetic linkage analysis.


RESULTS
Several genetic markers on chromosome 5q were strongly suggestive of linkage or confirmed linkage (LOD score > 3.0). Multipoint analysis generated a maximum LOD score of 4.25 between D5S414 and IL-9.


CONCLUSIONS
Reis-Bücklers', lattice type 1, Avillino, and granular corneal dystrophies all map to the same genetic locus. This suggests that one of the following might be true: (1) that a corneal gene family exists in this region; (2) that these corneal dystrophies represent allelic heterogeneity (that is, different mutations within the same gene manifest as different phenotypes); or (3) that these are all the same disease.
Small
K W
KW
Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, USA.
Mullen
L
L
Barletta
J
J
Graham
K
K
Glasgow
B
B
Stern
G
G
Yee
R
R
D001485:Basement Membrane / Q000473:pathology; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree