Cardiac laminopathy / CLAM / DCM (LMNA-related) - Nova Scotia Duck Tolling Retriever

What does this test examine?

This genetic test analyses the LMNA c.1726delG variant in the Nova Scotia Duck Tolling Retriever. The disorder is called cardiac laminopathy or CLAM and can present as dilated cardiomyopathy, also known as DCM.

What does this mean for the dog?

LMNA encodes lamin A/C, structural proteins important for the cell nucleus. The tested deletion causes a frameshift in the C-terminal part of lamin A. Dogs with two copies of the variant develop a severe cardiac disorder with dilated cardiomyopathy, myocardial fibrosis, arrhythmia and sudden death at a young age.

Practical value of this test

• The result distinguishes clear, carrier and genetically affected dogs for the CLAM variant.
• Breeders can identify carriers and avoid carrier-to-carrier pairings.
• For Toller lines, the test gives concrete information about a serious inherited heart disease with risk of young death.

Inheritance is predominantly autosomal recessive. One copy means carrier status; for this condition, carrier status is also relevant in breeding selection because cardiac abnormalities have rarely been described with one copy.