Test Detail
Weimaraner pack: Spinal dysraphism (NTD), hypomyelination (shaking puppy syndrome) (SPS) and DM exon 2
General · Dog
Multi-disease panel for the Weimaraner grouping three molecular tests: spinal dysraphism (NTD), hypomyelination (shaking puppy syndrome, SPS) and degenerative myelopathy (DM exon 2). It combines neurological conditions of development, myelination and degeneration.
Incidence
Applicable breed: Weimaraner. Weimaraner shaking puppy syndrome is a well-recognised FNIP2 form; carrier frequency was estimated at around 4.3% in the initial series (9 of 105 Weimaraners). For NKX2-8 NTD, no reliable carrier frequency has been published. For DM, carrier frequency varies by breed. Country-specific data for the breeding population are limited.
Breeder management
- Genotype breeding animals before mating; the panel covers three conditions in a single sample
- All three conditions are autosomal recessive: do not mate two carriers (25% risk of affected homozygotes); carrier × clear with testing of the offspring
- For Weimaraner SPS (FNIP2, autosomal recessive): since affected animals usually improve with age, an asymptomatic adult may have been affected during suckling; test before breeding
- For NTD (NKX2-8, autosomal recessive): do not mate two carriers; exclude affected homozygotes from breeding
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status
- All three conditions are autosomal recessive: do not mate two carriers (25% risk of affected homozygotes); carrier × clear with testing of the offspring
- For Weimaraner SPS (FNIP2, autosomal recessive): since affected animals usually improve with age, an asymptomatic adult may have been affected during suckling; test before breeding
- For NTD (NKX2-8, autosomal recessive): do not mate two carriers; exclude affected homozygotes from breeding
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status
Specialist notes
Check the exact panel offered by each laboratory. Weimaraner SPS is caused by FNIP2 (autosomal recessive); do not confuse it with X-linked hypomyelination due to PLP1 in the English springer spaniel, which has a fatal prognosis. SPS is suspected on the basis of generalised tremor in puppies at 10-12 days; the differential diagnosis includes neonatal hypoglycaemia, encephalopathies, portosystemic shunt and toxins, and confirmation is by molecular testing. NTD is diagnosed by imaging (MRI) in puppies with non-progressive congenital neurological signs. DM is a diagnosis of exclusion.
References
1. Awano T et al. 2009. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. PNAS. PMID: 19188595
2. Coates JR, Wininger FA. 2010. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. PMID: 20732599
3. Pemberton TJ et al. 2014. A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia. PMID: 24272703
4. Nadon NL, Duncan ID, Hudson LD. 1990. A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development. PMID: 1723945
5. Safra N et al. 2013. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. PLoS Genet. PMID: 23874236
OMIA:000526-9615 (hipomielinización del SNC, forma FNIP2 del Weimaraner); OMIA:000938-9615 (disrafismo espinal); OMIA:000770-9615 (temblor ligado al X, PLP1 del Springer spaniel); OMIA:000263-9615 (mielopatía degenerativa).
2. Coates JR, Wininger FA. 2010. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. PMID: 20732599
3. Pemberton TJ et al. 2014. A mutation in the canine gene encoding folliculin-interacting protein 2 (FNIP2) associated with a unique disruption in spinal cord myelination. Glia. PMID: 24272703
4. Nadon NL, Duncan ID, Hudson LD. 1990. A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development. PMID: 1723945
5. Safra N et al. 2013. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. PLoS Genet. PMID: 23874236
OMIA:000526-9615 (hipomielinización del SNC, forma FNIP2 del Weimaraner); OMIA:000938-9615 (disrafismo espinal); OMIA:000770-9615 (temblor ligado al X, PLP1 del Springer spaniel); OMIA:000263-9615 (mielopatía degenerativa).