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Lab Reports
October 1, 2008

Eye Disease Gene

JAMA. 2008;300(13):1508. doi:10.1001/jama.300.13.1508-b

The identification in dogs of a gene involved with the development of cone-rod dystrophies might have clinical value for humans with eye diseases similarly caused by progressive loss of photoreceptor cells (Wiik AC et al. Genome Res. 2008;18[9]:1415-1421).

Through a genome-wide scan performed in dachshunds, a team led by investigators at the Norwegian School of Veterinary Science in Oslo, Norway, and the Broad Institute of Harvard University and the Massachusetts Institute of Technology in Cambridge, Mass, isolated a genetic region on canine chromosome 5 that is associated with early- onset cone-rod dystrophies. Additional studies identified a deletion in the nephronophthisis 4 (NPHP4) gene.