Acral mutilation syndrome is a rare condition in some sporting dogs breeds. The hallmarks of the disease are loss of pain sensation, which results in dogs slowly but progressively over-grooming (licking) or biting their pads and paws leading to bleeding and ulceration. This in turn leads to bacterial and fungal infections and in many cases ulcers. Symptoms naturally occur in puppies around 4 months old.
While symptoms can be managed, there is no cure and euthanasia is a common outcome.
This mutation is autosomal recessive.
Our advice is to breed with carrier animals for the first few generations after the development of a DNA test. This ensures that desirable traits in the breed can be captured.
Carriers can be safely bred to clear dogs. On average, 50% of such a litter will be clear and 50% carriers; there can be no affected dogs produced from such a mating.
Puppies which will be used for breeding should themselves be DNA tested to determine whether they are clear or carriers of this AMS mutation.
| Gene | GDNF Regulatory |
|---|---|
| Variant | Single base substitution (C>T) in GDNF regulatory region |
| Assay Type | Variant Specific |
| Inheritance | Autosomal Recessive |
| Severity | Moderate-Severe: The welfare of affected animals is significantly affected and life expectancy is usually reduced. |
| Publication | Plassais J, Lagoutte L, Correard S, et al. (2016) A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. PLoS Genet. 12(12): e1006482. DOI: 10.1371/journal.pgen.1006482. |
