Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q

American Journal of Ophthalmology
K W SmallR W Yee

Abstract

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. 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. 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. 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.

References

Mar 1, 1974·Archives of Ophthalmology·P Hall
Jul 1, 1980·American Journal of Ophthalmology·T YamaguchiJ Valenti

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Citations

Sep 15, 1999·Ophthalmology·L P WernerG Renard
Oct 21, 1998·American Journal of Ophthalmology·M OkadaY Tano
Sep 4, 1998·American Journal of Ophthalmology·M OkadaY Tano
Dec 28, 1999·American Journal of Ophthalmology·G K Klintworth
Feb 22, 2002·Human Mutation·Chi Pui Pang, Dennis Shun Chiu Lam
Aug 24, 2002·Eye·M S SridharG N Rao
Mar 1, 1997·Nature Genetics·F L MunierD F Schorderet
Mar 5, 2019·Human Mutation·Valeria KheirDaniel F Schorderet

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