Peer-reviewed veterinary case report
Testing a gene mutation for cataracts in Dachshunds and Entlebucher
By Müller, Christina et al.·Published in Veterinary ophthalmology·2008·Institute for Animal Breeding and Genetics, Germany·View original on PubMed →
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Original publication title: Evaluation of canine heat shock transcription factor 4 (HSF4) as a candidate gene for primary cataracts in the Dachshund and the Entlebucher Mountain dog.
- Species:
- dog
Plain-English summary
A group of Dachshunds and Entlebucher Mountain dogs were tested for a specific genetic mutation thought to cause cataracts, which can lead to vision problems. Researchers looked at the HSF4 gene in these breeds but found that the mutation linked to cataracts in other breeds was not present. Instead, they discovered a different genetic variation that did not seem to cause cataracts in the dogs studied. This means that cataracts in these breeds may be caused by other factors, and further research is needed to understand the genetic causes of cataracts in dogs.
People also search for: Dachshund cataracts symptoms · Entlebucher Mountain dog eye problems · dog cataract treatment options
Abstract
OBJECTIVE: Testing of the cataract-causing insertion/deletion mutation in the canine HSF4 gene for its linkage and association with primary cataracts (CAT) in Dachshunds and Entlebucher Mountain dogs. MATERIALS: Exon 9 with flanking intronic regions of the canine HSF4 gene was sequenced in 24 Dachshunds and 20 Entlebucher Mountain dogs. The HSF4 cDNA sequence of lens tissue was analyzed in a CAT-unaffected mixed-breed dog and in three CAT-affected dogs of different breeds, including a Wire-haired Dachshund, a Dachshund-mix and a German Shepherd dog. RESULTS: In all dogs investigated here, the previously reported CAT-causing mutation did not exist. We found a single nucleotide polymorphism (SNP) in intron 9, which was neither associated nor linked with the CAT phenotype in the two dog breeds. CONCLUSION: The CAT phenotype in the two dog breeds investigated here was not caused by the same mutation found to be associated with early-onset CAT in the Staffordshire Bull Terrier and Boston Terrier. The intronic SNP may be useful to test HSF4 for linkage with CAT in further dog breeds.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18190350/