PRA5

Official Kennel Club DNA Testing Scheme

Generalised Progressive Retinal Atrophy (GPRA) – PRA5

Another type of the degenerative blinding eye condition, PRA, was discovered in a litter of UK bred Giant Schnauzers during 2016. Three affected littermates of European pepper/salt breeding were identified as affected, and subsequent testing with the existing prcd-PRA DNA test, described above, proved that this was a different type. Samples from the affected dogs and close relatives were sent to the Animal Health Trust where a whole genome sequencing approach was used to identify the mutation (NECAP1) for this novel type of PRA. An additional 309 Giant Schnauzers were involved in the research from 3 different cohorts in the UK, Finland and Switzerland. Of these additional research dogs, a further 9 were found to be carriers, and carriers were seen in both black and pepper/salt Giants. The AHT estimate that approximately 1 in 4715 giant schnauzers will be homozygous for this mutation, and 1 in 35 dogs (2.9%) will be carriers. The full research article can be found on the following link: Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

The mode of inheritance is autosomal recessive, which means a dog will only be affected if they have 2 copies of the recessive gene, one from the sire and one from the dam. The result of the DNA test will be either clear, carrier or affected. See Breeding from a DNA Tested Dog for further information regarding the result and breeding advice.

The DNA test was originally available via the AHT and is now provided by Animal Diagnostics and Laboklin as well as the Kennel Club CombiBreed package:

Part of the Kennel Club CombiBreed DNA Package

Animal Diagnostics PRA5

Laboklin PRA5