Test Detail

Tibetan Terrier panel: PRA3, rcd4-PRA, pituitary dwarfism, NCL, primary lens luxation (PLL) and DM exon 2

General · Dog

Multi-disease panel for the Tibetan Terrier that groups six molecular tests: progressive retinal atrophy type 3 (PRA3), rcd4 progressive retinal atrophy (rcd4-PRA), pituitary dwarfism, neuronal ceroid lipofuscinosis (NCL), primary lens luxation (PLL) and degenerative myelopathy (DM exon 2). It combines ocular, endocrine, neurodegenerative and neurological conditions.
Inheritance patternPRA3 (FAM161A), rcd4-PRA (C2orf71/PCARE), pituitary dwarfism (LHX3), NCL12 (ATP13A2), PLL (ADAMTS17) and DM exon 2 (SOD1): autosomal recessive; DM with incomplete penetrance.
Gene / MutationPRA3 — FAM161A, intronic insertion of ~230 bp with SINE (OMIA:001918-9615). rcd4-PRA — C2orf71/PCARE. Pituitary dwarfism — LHX3, 7 bp deletion in intron 5 (c.621+21_621+27del), documented in the Tibetan Terrier (OMIA:002314-9615). NCL12 — ATP13A2 c.1623delG (alternative nomenclature c.1620delG) (OMIA:001552-9615). PLL — ADAMTS17 c.1473+1G>A (OMIA:000588-9615). DM exon 2 — SOD1 c.118G>A p.(E40K).
PenetrancePRA3, rcd4-PRA and NCL12: high in homozygotes, with variable adult onset. Pituitary dwarfism: homozygotes for the LHX3 deletion show the complete phenotype (combined pituitary hormone deficiency); heterozygotes are clinically normal. PLL: high in homozygotes, with variable age of onset in the adult. DM exon 2: incomplete and age-dependent.
Codelpck
Turnaround time15 days
Price126,89 €

Incidence

Applicable breed: Tibetan Terrier. PLL due to ADAMTS17 c.1473+1G>A is documented in the breed; the LHX3 variant of pituitary dwarfism was documented in the Tibetan Terrier (Thaiwong et al. 2021); NCL12 due to ATP13A2 is specific to the breed. No reliable carrier frequency figures are available by country (limited data).

Breeder management

- Genotype the breeding animals before mating; the panel covers six conditions in a single sample.\n- Recessive (PRA3, rcd4-PRA, pituitary dwarfism, NCL12, PLL and DM exon 2): do not mate two carriers (25 % of homozygotes per litter); carrier × clear produces no affected animals.\n- PLL: luxation may appear in the adult; combine molecular testing with periodic ocular examination (ECVO).\n- Pituitary dwarfism: prioritise genotyping of the intron 5 deletion of LHX3.\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer.

Specialist notes

Verify the exact panel offered by each laboratory. Annual ocular examination (ECVO) complementary for PRA3, rcd4-PRA and PLL. PLL is suspected from acute ocular signs (luxation) and confirmed by ophthalmoscopy and gonioscopy; molecular testing does not replace follow-up. NCL is a clinical and post-mortem diagnosis. Pituitary dwarfism is confirmed by a hormone panel and molecular testing; verify the breed-specific variant. DM is a diagnosis of exclusion.

References

1. Farias FH et al. 2010, mutación del sitio donador de splicing de ADAMTS17 en perros con luxación primaria de lente (Invest Ophthalmol Vis Sci) (PMID 20375329).
2. Awano T et al. 2009, mutación de SOD1 en la mielopatía degenerativa canina (PNAS) (PMID 19188595).
3. Voorbij AM et al. 2011, repetición contraída en el intrón 5 de LHX3 asociada a empalme aberrante y enanismo pituitario en el Pastor alemán (PLoS One) (PMID 22132174).
4. Thaiwong T et al. 2021, enanismo en perros Tibetan terrier con mutación de LHX3 (J Vet Diagn Invest) (PMID 33890524).
5. Downs LM, Mellersh CS 2014, inserción intrónica SINE en FAM161A causante de salto de exón y PRA en spaniel y terrier tibetanos (PLoS One) (PMID 24705771).
6. Downs LM et al. 2013, PRA de inicio tardío en Gordon e Irish Setter asociada a C2orf71 (Anim Genet) (PMID 22686255).
7. Farias FH et al. 2011, mutación truncante de ATP13A2 causante de lipofuscinosis neuronal ceroide de inicio adulto en Tibetan terriers (Neurobiol Dis) (PMID 21362476).
8. OMIA:001918-9615, OMIA:002314-9615, OMIA:001552-9615, OMIA:000588-9615.

Tests included in this pack (6)

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