Test Detail
Laryngeal paralysis (LP) of the Bull terrier
Neurological · Dog
Early-onset laryngeal paralysis in the Bull terrier and Miniature Bull terrier in which an insertion in the RAPGEF6 gene acts as a major risk factor. It is a multifactorial trait: the variant modulates risk but does not determine it, so homozygosity should be interpreted as increased risk and not as a diagnosis of disease.
Incidence
The allele was found in Bull terrier and Miniature Bull terrier and was absent in more than 1000 controls of other breeds (Hadji Rasouliha et al. 2019); no published population prevalence.
Breeder management
- Do not interpret homozygosity as a diagnosis: it is a risk factor, not deterministic
- It can be used as a selection tool in affected lines
- Combine with clinical assessment of the airway and family history
- Avoid presenting it as a diagnostic test or sole exclusion criterion
- Inform about its multifactorial nature
- It can be used as a selection tool in affected lines
- Combine with clinical assessment of the airway and family history
- Avoid presenting it as a diagnostic test or sole exclusion criterion
- Inform about its multifactorial nature
Specialist notes
Differential diagnosis with other hereditary laryngeal paralyses/polyneuropathies (RAB3GAP1, CNTNAP1, ARHGEF10, GJA9, SBF2). Because of its multifactorial nature, integrate the result with the clinical phenotype.
References
Hadji Rasouliha S et al. 2019. A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. PLoS Genet. PMID: 31647804