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Laryngeal Paralysis (Bull Terrier Type)

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Test Overview:

Laryngeal paralysis (LP) is the inability to abduct the arytenoid cartilages during inspiration, resulting in a partial to complete airway obstruction and consequent respiratory distress. Different forms of LP with varying age of onset exist in dogs. Hereditary early onset forms were reported in several dog breeds. In most breeds, hereditary LP is associated with other neurologic pathologies. Clinical signs include decreasing exercise tolerance, progressive laryngeal stridor, voice impairment, episodes of breathing difficulties and collapsing. In the Bull Terrier and Miniature Bull Terrier, a genetic variant has been identified as a major genetic risk factor for an early onset form of laryngeal paralysis. Dogs which are homozygous for the variant are at 23 fold increased risk of developing the disease, and therefore, dogs carrying the varian should be bred with clear dogs to avoid producing puppies with two copies of the variant.

Category:

Respiratory - Associated with the lungs and respiratory system

Gene:

RAPGEF6

Variant Detected:

c.1793_1794ins36, p.(Ile587ProfsTer5) on Chr 11

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Recommended Screening:

Genetic testing of the RAPGEF6 gene will reliably determine if a dog is a genetic carrier of Laryngeal Paralysis.

Research Citation(s):

Hadji Rasouliha, 2019, PLoS Genet 15(10): e1008416.

Associated Breed(s):

Bull Terrier, Miniature Bull Terrier,

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