Test Detail

Multi-disease panel for the Rottweiler grouping six molecular tests: leukoencephalopathy/leukoencephalomyelopathy (LEMP, NAPEPLD), degenerative myelopathy (DM exon 2, SOD1), neuroaxonal dystrophy (NAD, VPS11), X-linked myotubular myopathy (XL-MTM, MTM1), juvenile laryngeal paralysis and polyneuropathy / neuronal vacuolation and spinocerebellar degeneration (JLPP/NVSD, RAB3GAP1) and hair length I (FGF5). It combines severe neuromuscular and neurodegenerative conditions with a coat marker. The molecular test is complementary to the clinical examination and does not replace neurological follow-up.

Applicable breed: Rottweiler. DM exon 2: the SOD1 variant is documented in the Rottweiler (OMIA:000263-9615; kennel screening, PMID 37106965). NAD: allele frequency estimated at around 2.3 % (Lucot 2018). LEMP, XL-MTM and JLPP/NVSD: cases described in the breed, without reliable population frequencies (limited data). Hair length I: morphological trait; the panel provides little information in breeds with a fixed coat such as the Rottweiler. Carrier frequencies by country: limited data.

- Genotype breeding animals before mating; the panel covers six conditions/markers in a single sample\n- For LEMP, DM, NAD and JLPP/NVSD (recessive): do not cross two carriers — 25 % risk of affected homozygotes; a carrier may be crossed with a free animal and the offspring intended for breeding tested\n- For XL-MTM (X-linked): a carrier female transmits the variant to 50 % of the daughters (carriers) and 50 % of the sons (affected males); do not cross carrier females and do not use affected males as breeding animals; prioritise free females\n- For hair length I: guides the prediction of the coat; it is a morphological trait, not a health test\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer

Verify the exact panel offered by each laboratory, because not all include the six variants for Rottweiler. DM is a diagnosis of exclusion: rule out spinal compression, disc herniation and neoplasia before attributing the picture to SOD1. XL-MTM is suspected in male puppies with severe muscle weakness and is confirmed by molecular test and muscle biopsy (type I fibres with central nuclei). JLPP/NVSD is suspected by laryngeal stridor and regurgitation in young animals; the differential diagnosis includes idiopathic laryngeal paralysis and other polyneuropathies. NAD and LEMP are diagnoses by imaging (MRI) and, where applicable, post mortem. Hair length I is not a disease.

1. Awano T et al. (2009). Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106(8):2794-2799. PMID: 19188595
2. Coates JR et al. (2010). Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. PMID: 20732599
3. Beggs AH et al. (2010). MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A 107(33):14697-14702. PMID: 20682747
4. Shelton GD et al. (2015). X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle 5:1. PMID: 25664165
5. Snead EC et al. (2015). Clinical phenotype of X-linked myotubular myopathy in Labrador Retriever puppies. J Vet Intern Med 29(1):254-260. PMID: 25581576
6. Lucot KL et al. (2018). A missense mutation in the vacuolar protein sorting 11 (VPS11) gene is associated with neuroaxonal dystrophy in Rottweiler dogs. G3 (Bethesda). PMID: 29945969
7. Minor KM et al. (2018). Canine NAPEPLD-associated models of human myelin disorders. Sci Rep 8:5818. PMID: 29643404
8. Oevermann A et al. (2008). A novel leukoencephalomyelopathy of Leonberger dogs. J Vet Intern Med 22(2):467-471. PMID: 18371035
9. Hirschvogel K et al. (2013). Magnetic resonance imaging and genetic investigation of a case of Rottweiler leukoencephalomyelopathy. BMC Vet Res 9:57. PMID: 23531239
10. Mhlanga-Mutangadura T et al. (2016). A homozygous RAB3GAP1:c.743delC mutation in Rottweilers with neuronal vacuolation and spinocerebellar degeneration. J Vet Intern Med. PMID: 26968732
11. Mhlanga-Mutangadura T et al. (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. PMID: 26607784
12. Cadieu E et al. (2009). Coat variation in the domestic dog is governed by variants in three genes. Science 326(5949):150-153. PMID: 19713490
13. Housley DJ, Venta PJ. (2006). The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability. Anim Genet 37(4). PMID: 16879338.
14. OMIA:001788-9615 (Leukoencephalomyelopathy, NAPEPLD-related); OMIA:002152-9615 (Neuroaxonal dystrophy, VPS11-related); OMIA:001970-9615 (Polyneuropathy, RAB3GAP1-related); OMIA:001508-9615 (Myotubular myopathy 1); OMIA:000263-9615 (Degenerative myelopathy); OMIA:000439-9615 (Hair, long).