Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel <scp> <i>RETREG1</i> </scp> variant

Background Hereditary sensory and autonomic neuropathies (HSANs) are a group of genetic disorders affecting the peripheral nervous system. Two different associated variants have been identified in dogs: 1 Border Collies Spaniels Pointers. Objectives Clinically genetically characterize HSAN family mixed breed dogs. Animals Five 7-month-old dogs from 2 related litters were presented for evaluation 2-month history acral mutilation progressive pelvic limb gait abnormalities. Methods Complete physical, neurological, electrodiagnostic, histopathological evaluations performed. Whole genome sequencing affected (1 each litter) was used to identify that homozygous or heterozygous both cases, but wild type 217 control genomes 100 breeds. Immunohistochemistry assess protein expression. Results confirmed disorder nerves. missense variant RETREG1 (reticulophagy regulator 1) gene (c.656C > T, p.P219L). All variant, which not detected 1193 showed no expression cerebellum One lived 5 years gradual progression clinical signs. Conclusions Clinical Importance We diagnosis novel possibly pathogenic variant. Affected experienced deterioration over several years.