Acral Mutilation Syndrome (GDNF-type)

Find out if your Spaniel or Pointer could develop Acral Mutilation Syndrome (AMS) caused by GDNF at CAGT.

UK only
CODE AMS-GDNF
Categories ,
Breed(s) , , ,
OMIA OMIA001514-9615
Aliases , , ,

Results from this test will be reported as detailed in the Registry Reporting list.

Overview

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.

Autosomal Recessive

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.

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