Progressive Retinal Atrophy – NECAP1 Type (PRA-N)
Disease description:
Canine progressive retinal atrophies (PRAs) are characterized by retinal degeneration and subsequent visual impairment. Forms of PRA occur in many breeds and have been associated with variants in a number of different genes. A variant in the NECAP1 gene was found to be associated with a late-onset form of PRA in Giant Schnauzers in which visual impairment was first recognized when the dogs were about 4 years old. The same variant was also found in a number of other breeds. There is no treatment for this form of PRA.
Breeds affected: Giant Schnauzer, Giant Spitz, Medium Spitz, Miniature Spitz, Dachshund
Reference:
Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Mellersh CS. Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Genes 10:385, 2019.
Gene: NECAP1
Explanation of PRA-N DNA Test Results
Normal (N/N)
This dog tested clear for the mutation causing the PRA-N form of PRA in this breed. It can only transmit a normal gene to offspring and can be bred to a dog with any test result without producing affected offspring.
Carrier (A/N)
This dog has tested as a carrier for the mutation causing PRA-N in this breed. It will not develop the disease, but it may transmit either a normal gene or an affected gene to offspring. To avoid producing affected offspring this dog should only be bred to dogs DNA-tested NORMAL for this mutation.
Affected (A/A)
This dog has tested as affected for the mutation causing PRA-N in this
breed. It is likely to develop symptoms of the disease. For more information on this disorder, please refer to the Canine Genetics Laboratory website
https://cvm.missouri.edu/research/canine-genetics-laboratory/
Tests are ordered online through the secure area of the OFA website. Payment is accepted by credit card (MasterCard and VISA). The OFA administers all order handling. Upon receipt of an order, the OFA will send out the test kit which will include a Foam-Tipped Applicator card for DNA sample collection, along with sample collection instructions. Using the FTA card technology, owners can safely collect DNA samples at home. The collection process is non-invasive, and no veterinary appointment is necessary.
Samples are then sent to the University of Missouri College of Veterinary Medicine where the samples will be processed by the Small Animal Molecular Genetics Lab. Results will be forwarded to the OFA, and the OFA will issue the resulting report to the owner.
The fee for each test includes the test kit, laboratory processing, and subsequent registration in the OFA databases.