Test Detail
Russian Black Terrier pack: HUU/SLC, DM exon 2 and laryngeal paralysis and polyneuropathy (JLPP)
General · Dog
Multi-disease panel for the Russian Black Terrier combining three molecular tests: hyperuricosuria (HUU/SLC), degenerative myelopathy (DM exon 2) and juvenile laryngeal paralysis and polyneuropathy (JLPP). It combines urinary, neurological and neuromuscular conditions, all inherited in an autosomal recessive manner.
Incidence
Applicable breed: Russian Black Terrier. HUU due to SLC2A9 is documented in the breed (Karmi et al., 2010; OMIA:001033-9615), with no published population prevalences. The SOD1 variant of DM is pan-breed and its breed-specific presence is not established. JLPP due to RAB3GAP1 c.743delC is documented in the breed (Mhlanga-Mutangadura et al., 2016). Reliable frequencies by country: limited data.
Breeder management
- Genotype breeding animals before mating; the panel covers three conditions in a single sample
- For the recessive conditions (HUU, DM, JLPP): do not breed two carriers together — 25 % risk of affected homozygotes; carrier × clear is safe if the offspring intended for breeding is tested
- In HUU homozygotes, recommend a low-purine diet, abundant hydration and urinary monitoring
- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer
- For the recessive conditions (HUU, DM, JLPP): do not breed two carriers together — 25 % risk of affected homozygotes; carrier × clear is safe if the offspring intended for breeding is tested
- In HUU homozygotes, recommend a low-purine diet, abundant hydration and urinary monitoring
- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer
Specialist notes
DM is a diagnosis of exclusion (rule out spinal cord compression). JLPP is suspected from laryngeal stridor and neurological signs in young dogs; the differential diagnosis includes other laryngeal paralyses and hereditary polyneuropathies. HUU is confirmed by urinalysis (uric acid, urate uroliths) and managed with a low-purine diet and hydration. Verify that the panel offered corresponds to the variants described here.
References
1. Bannasch D, et al. Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet. 2008. PMID: 18989453.
2. Karmi N, et al. Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res. 2010. PMID: 20673090.
3. Awano T, et al. PNAS. 2009. PMID: 19188595.
4. Mhlanga-Mutangadura T, et al. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis. 2016. PMID: 26607784.
5. Mhlanga-Mutangadura T, et al. A homozygous RAB3GAP1:c.743delC mutation in Rottweilers with neuronal vacuolation and spinocerebellar degeneration. J Vet Intern Med. 2016. PMID: 26968732.
OMIA:001033-9615 (HUU); OMIA:000263-9615 (DM); OMIA:001970-9615 (JLPP/POANV).
2. Karmi N, et al. Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res. 2010. PMID: 20673090.
3. Awano T, et al. PNAS. 2009. PMID: 19188595.
4. Mhlanga-Mutangadura T, et al. A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis. 2016. PMID: 26607784.
5. Mhlanga-Mutangadura T, et al. A homozygous RAB3GAP1:c.743delC mutation in Rottweilers with neuronal vacuolation and spinocerebellar degeneration. J Vet Intern Med. 2016. PMID: 26968732.
OMIA:001033-9615 (HUU); OMIA:000263-9615 (DM); OMIA:001970-9615 (JLPP/POANV).