Peer-reviewed veterinary case report
RPGR gene deletions cause X-linked blindness in Siberian huskies
By Zangerl, Barbara et al.·Published in The Journal of heredity·2007·Department of Clinical Studies-Philadelphia, United States·View original on PubMed →
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Original publication title: Independent origin and restricted distribution of RPGR deletions causing XLPRA.
- Species:
- dog
Plain-English summary
A Siberian husky or samoyed may develop X-linked progressive retinal atrophy (XLPRA), a genetic condition that leads to blindness. This disorder is caused by mutations in a specific gene and is seen in two forms: XLPRA1 in Siberian huskies and samoyeds, and XLPRA2 in mongrel dogs. Genetic testing can help confirm the presence of these mutations, which are not found in all dog breeds. Unfortunately, there is currently no cure for XLPRA, and affected dogs may eventually lose their vision.
People also search for: Siberian husky blindness · samoyed eye problems · XLPRA treatment for dogs
Abstract
Canine X-linked progressive retinal atrophy (XLPRA) is an inherited blinding disorder caused by mutations in the ORF15 of the RPGR gene and homolog to human retinitis pigmentosa 3 (RP3). The disease is observed in 2 variations, XLPRA1 in Siberian husky and samoyed and XLPRA2 derived from mongrel dogs. A third, neutral, deletion has been described in red wolves. Haplotype analysis of the 633-kbp RP3 interval in 6 different canidae confirmed the same decent for the XLPRA1 mutation in both affected breeds but suggests a recent and independent origin for both forms of XLPRA. The RP3 interval was excluded from causative associations with blindness in the red wolf and akita, a breed closely related to Nordic sled dogs. Overall, these data suggest a limited distribution of the affected haplotypes and indicate that mutations in the ORF15 are likely to be limited to the described dog breeds.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/17646274/