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News Article

Genetic risk factor for laryngeal paralysis in Miniature Bull Terriers identified


A genetic test can now be developed

In a study published in PLOS Genetics, a team of German specialists in canine head and neck surgery and geneticists from the University of Bern identify a mutation responsible for laryngeal paralysis in Miniature Bull Terriers, enabling the development of a genetic test for the disease.

Laryngeal paralysis most commonly affects middle-aged or geriatric dogs belonging to large and giant dog breeds, but recently breeders observed a rise in laryngeal paralysis striking in young Miniature Bull Terriers. To identify a genetic cause, researchers performed a genome-wide association study and analysed genome sequences of several hundred dogs to find mutations that occur in Miniature Bull Terriers with the disease. In the genome of affected dogs, they discovered an extra piece of DNA inserted into the RAPGEF6 gene that results in production of an incomplete, non-functional RAPGEF6 protein. Miniature Bull Terriers that carried only mutant versions of the gene had a 10- to 17-fold increased risk of laryngeal paralysis.

The researchers did not detect a perfect correlation between the mutation and the laryngeal paralysis, which suggests that other genetic and environmental factors also may contribute to the development of the disease. Additionally, this mutation only occurred in Miniature and standard Bull Terriers, and thus cannot explain laryngeal paralysis in other dog breeds. However, the study identifies an important role for RAPGEF6 in laryngeal nerve function.

With this information, a genetic test for the mutation can now be developed to prevent the breeding of Miniature Bull Terriers and Bull Terriers that are at risk for the disease.

Article: Hadji Rasouliha, S., Barrientos, L., Anderegg, L., Klesty, C., Lorenz, J., Chevallier, L., Jagannathan, V., Rösch, S., Leeb, T. (2019). A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genetics 15(10):e1008416, doi: 10.1371/journal.pgen.1008416

Article details

  • Date
  • 29 October 2019
  • Source
  • PLOS Genetics
  • Subject(s)
  • Dogs, Cats, and other Companion Animals