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Beagle health panel (POAG, pyruvate kinase deficiency, osteogenesis imperfecta)

General · Dog

Beagle-specific genetic panel grouping three hereditary conditions: primary open-angle glaucoma (POAG) due to an ADAMTS10 variant, pyruvate kinase (PK) deficiency due to a PKLR variant and osteogenesis imperfecta due to a COL1A2 variant. POAG compromises aqueous humour drainage with increased intraocular pressure and progressive blindness; PK deficiency causes chronic haemolytic anaemia due to impaired erythrocyte glycolysis; and osteogenesis imperfecta presents with bone fragility and fractures. POAG and PK deficiency are inherited in an autosomal recessive manner; COL1A2 osteogenesis imperfecta is autosomal dominant. All three allow genetic selection of breeding animals.
Inheritance patternPOAG (ADAMTS10): autosomal recessive. PK deficiency (PKLR): autosomal recessive. Osteogenesis imperfecta (COL1A2): autosomal dominant.
Gene / MutationPOAG: ADAMTS10 g.53096339C>T c.1981G>A p.(G661R). PK: PKLR g.42268927G>A c.994G>A p.(G332S). OI: COL1A2 g.19918265_19918268delinsTGTCATTGG c.3656_3859delinsTGTCATTGG p.(L1286Cfs*31)
PenetrancePOAG and PK deficiency are recessive: homozygotes are expressive and heterozygous carriers are asymptomatic. In osteogenesis imperfecta (dominant), a single mutant allele can produce the phenotype, with variable expressivity. The age of onset and severity of POAG vary between individuals.
Codexgeb
Turnaround time15 days
Price130,70 €

Incidence

Beagle. PK deficiency and POAG are well characterised in the breed, although carrier frequency is not published systematically. For osteogenesis imperfecta the population data are limited and the frequency is uncertain.

Breeder management

- Genotype breeding animals before mating for the three conditions\n- Do not mate two carriers for the recessive variants (POAG and PK deficiency)\n- For POAG, prioritise animals free of mutant ADAMTS10\n- Carriers of recessive variants can be mated to clear animals and progressively replaced, preserving genetic diversity\n- In osteogenesis imperfecta (dominant), screen out the variant in every breeding animal and exclude carriers from breeding\n- Exclude affected homozygous animals from breeding

Specialist notes

Beagle POAG is one of the best-characterised natural models of human glaucoma. PK deficiency must be distinguished from other hereditary haemolytic anaemias (e.g., phosphofructokinase or pyrimidine 5'-nucleotidase deficiency). COL1A2 osteogenesis imperfecta is characterised in the breed; being dominant, a single mutant allele is enough to transmit it.

References

1. Kuchtey J et al. 2011. Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. PLoS Genet 7:e1001306. PMID: 21379321
2. Kuchtey J et al. 2013. Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles. Invest Ophthalmol Vis Sci 54:1881-1886. PMID: 23422823
3. Pytak RA 3rd et al. 2023. Iris angiography in ADAMTS10 mutant dogs with open-angle glaucoma (ADAMTS10-OAG). Vet Ophthalmol 26:514-523. PMID: 36855027
4. Gultekin GI et al. 2012. Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. J Vet Intern Med 26:935-944. PMID: 22805166
5. Campbell BG et al. 2001. Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha2(I) and severe osteogenesis imperfecta. J Bone Miner Res 16:1147-1153. PMID: 11393792
6. OMIA:001870-9615 (POAG), OMIA:000844-9615 (déficit de PK) y OMIA:002112-9615 (osteogénesis imperfecta). https://omia.org/

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