Deutsch
Hrvatski
Русский
Português
Laryngeal paralysis (LP) - Bull Terrier Type
| Acronym: | LP |
| Gene: | RAPGEF6 |
| Mutation: | c.1793_1794insTTTTTTTTTTTTTTTTTTTTTAGCCCTTGAAATTTT |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Laryngeal paralysis (LP) is a genetic larynx disorder characterized by defective function of laryngeal nerves and inability to abduct the arytenoid cartilages during inspiration. Different forms of LP with varying age of onset exist in different dog breeds, but this type is specific for miniature bull terriers and bull terriers. Laryngeal paralysis in dogs is often associated with other neurologic pathologies. When the nerves are unable to transmit the message correctly, and the muscles become weak or paralyzed, the dog is unable to breath in properly causinf the affected dogs to breath noisily and have other breathing difficulties. This type of LP is a consequence of a varaint in RAPGEF6 gene whose gene product is involved in microvillus assembly.
LP in miniature bull terriers and bull terriers is an autosomal recessive trait. Dogs carring two copies of the mutated gene have a high risk for developing the disease. Dogs carrying only one copy of the mutated gene have low risk to develop the disease but may act as carriers that can potentially pass the mutation to their offspring. The disease is progressive, worsens the quality of life of affected dogs and it may lead to death due to choking. Early detection by genetic testing can identify dogs that carry the mutation and inform the breeders decisions when selecting mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
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. https://doi.org/10.1371/journal.pgen.1008416
Mhlanga-Mutangadura, T., Johnson GS. (2016): A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis. Feb;86:75-85.
Mhlanga-Mutangadura, T., Johnson, G. S., Johnson, G. C., Hansen, L., Tamassia, O’Brien, D. P., et al. (2014): The whole genome sequences from a Rottweiler and Black Russian Terrier with overlapping neurological syndromes contain the same RAB3GAP1 frame shift mutation.