The causative mutation for this disease was identified and reported in 2010 by canine geneticist in the USA. A DNA test for this mutation has been offered by the AHT DNA testing service since 2012.
Musladin-Lueke Syndrome (MLS) affects the development and structure of connective tissue. This can affect many structures and organs with the dog, including bone, skin and muscle.
This syndrome is characterised by thick tight skin, high set creased ears, flat skull, narrowed eyes and short outer toes. The pups are usually small with a stiff Gait. Some dogs with this syndrome will live to a normal life span as the conditions stabilised on maturity, others will die very young as a result of problems associated with this disease.
How is this disease inherited?
This syndrome is caused by a mutation the ADAMTSL2 gene, and shows an autosomal recessive mode of inheritance. This means that a dog must have two copies, one inherited from each parent, of the causative mutation to suffer from the disease.
Dogs with one copy of the mutation that causes the disease and one normal copy are called carriers. These dogs do not suffer from the condition but can pass the mutation on to their offspring. If two carriers are mated approximately 25% will develop this disease, 25% will be clear (carry no copies of the mutation) and 50% will be carriers.
Owners using this test will be sent their results identifying their dog as belonging to one of three Categories.
Clear: The dog has two copies of the normal gene and will not develop Musladin-Lueke Syndrome, nor will it pass any copies of this mutation to its offspring.
Carrier: The dog has one copy of the normal gene and one copy of the mutation that causes Muslain-Lueke Syndrome. The dog will not develop this disease but can pass the mutation on to its offspring.
Affected: The dog has two copies of this mutation that causes Muslain-Lueke Syndrome and so does have Muslain-Lueke Syndrome.
Dogs carrying this mutation can still be breed to clear dogs. Such a mating will on average results in 50% of the puppies being clear of this mutation and 50% that are carriers of this mutation. Pups that will be used for breeding should then be DNA tested themselves to determine if they are carriers of clear.
Clubs/associations receiving results.
Results from this test are reported directly to the Kennel Club.
Results are only reported to clubs and associations within the country of residence given when ordering.