Sensory Neuropathy (Border Collie Type)
Affected Genes: FAM134B
Inheritance: Autosomal Recessive
Variant(canFam6):
breakpoints in intron 3 of FAM134B (chr4:86,427,791) and in an upstream intergenic region (chr4:80,083130)
Breed: Border Collie
Bordoodle
General Information: Sensory neuropathy is a progressive neurological disease in dogs, typically manifesting between two and seven months of age with symptoms such as ataxia, abnormal gait, muscle atrophy, and loss of limb sensation. As the disease advances, affected dogs may experience urinary incontinence, regurgitation, and an inability to recognize limb position, with hind limbs often more severely affected. Additionally, dogs may develop self-injury behaviors like chewing on limbs, leading to severe wounds. Due to declining quality of life, affected dogs are often euthanized within 18 months of diagnosis.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the FAM134B gene identifies carriers of sensory neuropathy, inherited in an autosomal recessive pattern in dogs, requiring two copies of the mutated gene for disease development. While carrier dogs typically show no symptoms, breeding between carriers increases the risk of producing affected offspring, with each pup from such a pairing having a 25% chance of inheriting the disease. To prevent the transmission of this mutation and the production of affected pups, responsible breeding practices involve avoiding mating known carriers with each other. Dogs not carrying the mutation pose no increased risk of having affected pups.
References:
Forman OP, Hitti RJ, Pettitt L, Jenkins CA, O’Brien DP, Shelton GD, Risio LD, Quintana RG, Beltran E, Cathryn Mellersh. An inversion disrupting FAM134B is associated with sensory neuropathy in the Border Collie dog breed. G3 (Bethesda). 2016 6(9):2687-2692.