Acral mutilation syndrome (AMS) test at Canine Genetic Testing

Acral Mutilation Syndrome (GDNF-type)

£48.00 Incl. VAT

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

CODE	AMS-GDNF
Categories	Disease Tests, Neurologic Disease
Turnaround	1-2 weeks
Breed(s)	Cockapoo (English), German Shorthaired Pointer, Pointer, Spaniel (Cocker), Spaniel (English Springer), Spaniel (French)
OMIA	OMIA001514-9615
Aliases	AMS, Pain Insensitivity, Sensory Neuropathy, SN

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

Overview

Part of the official UK Kennel Club testing scheme in Spaniel (Cocker), Spaniel (English Cocker) and Spaniel (English Springer)

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
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.