Progressive Retinal Atrophy (PCYT2-Deficiency) – Saarloos Wolfdog
Code: H280
Short description
The enzyme Phosphate Cytidylyltransferase 2 (PCYT2) is involved in the metabolism of the cell, assisting in the creation of molecules essential for the functioning of nerves.
General information
The enzyme Phosphate Cytidylyltransferase 2 (PCYT2) is involved in the metabolism of the cell, assisting in the creation of molecules essential for the functioning of nerves. In the Saarloos Wolfdog, a recessive mutation to the gene for PCYT2 is known to result in degenerating eyesight, loss of coordination and other neurological defects.
Specifications
| Breeds | |
|---|---|
| Gene | PCYT2 |
| Chromosome | 9 |
| Mutation | c.4A>G |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
The first sign of PCYT2 deficiency in affected dogs is a progressive loss of vision consistent with Progressive Retinal Atrophy (PRA), which becomes apparent between 1 and 4 years of age. Subsequently, the disease can result in neurological and muscular symptoms like ataxia (loss of coordination), abnormal gait, weakness of the hind limbs, tremors, epileptic seizures and behavioural abnormalities such as sudden aggression towards the owner.
References
Pubmed ID: 38277988
Year published: 2024
Omia ID: 2728
Omia variant ID:
Turnaround information
- 15 working days