Peer-reviewed veterinary case report
Genetic cause of no fibrinogen in Dachshunds explained
By Mischke, Reinhard et al.·Published in Genes·2021·Clinic for Small Animals, Germany·View original on PubMed →
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Original publication title: AnFrameshift Variant Associated with Afibrinogenemia in Dachshunds.
- Species:
- dog
Plain-English summary
Four miniature wire-haired Dachshunds were found to have afibrinogenemia, a rare condition that causes severe bleeding due to a lack of a protein needed for blood clotting. Researchers identified a specific genetic mutation linked to this disorder, which has likely been passed down through the breed. This discovery can help breeders avoid producing puppies with this condition by using genetic testing. The affected dogs may experience serious health issues related to bleeding, but with proper breeding practices, future cases can be prevented.
People also search for: Dachshund bleeding disorder · afibrinogenemia in dogs · genetic testing for Dachshunds
Abstract
Congenital fibrinogen disorders are very rare in dogs. Cases of afibrinogenemia have been reported in Bernese Mountain, Bichon Frise, Cocker Spaniel, Collie, Lhasa Apso, Viszla, and St. Bernard dogs. In the present study, we examined four miniature wire-haired Dachshunds with afibrinogenemia and ascertained their pedigree. Homozygosity mapping and a genome-wide association study identified a candidate genomic region at 50,188,932-64,187,680 bp on CFA15 harboring(),(), and(). Sanger sequencing of all threegenes in two cases and validation of the-associated mutation (:g.6296delT, NC_006597.3:g.52240694delA, rs1152388481) in pedigree members showed a perfect co-segregation with afibrinogenemia-affected phenotypes, obligate carriers, and healthy animals. In addition, the rs1152388481 variant was validated in 393 Dachshunds and samples from 33 other dog breeds. The rs1152388481 variant is predicted to modify the protein sequence of bothtranscripts (FGA201:p.Ile486Met and FGA-202:p.Ile555Met) leading to proteins truncated by 306 amino acids. The present data provide evidence for a noveltruncating frameshift mutation that is very likely to explain the cases of severe bleeding due to afibrinogenemia in a Dachshund family. This mutation has already been spread in Dachshunds through carriers before cases were ascertained. Genetic testing allows selective breeding to prevent afibrinogenemia-affected puppies in the future.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34356081/