Glycogen storage disease / PGBM1 (RBCK1-related) - Basset Hound

What does this test analyse?

This genetic test analyses the RBCK1 c.1044+1G>T variant in the Basset Hound. The disorder is known as Polyglucosan body myopathy / PGBM1, GSD-PGBM1 or polyglucosan body myopathy type 1, inherited glycogen storage, glycogen storage disease and a metabolic disorder of energy or glucose metabolism.

RBCK1 is involved in cellular processes that influence normal glycogen handling in skeletal and cardiac muscle. When this process is disrupted, glycogen or abnormal glycogen-like material can accumulate in tissues with high energy demand. This explains why affected dogs may develop problems involving muscle function, exercise, blood cells, liver, kidneys or heart, depending on the specific form. In Basset Hounds, clear signs may only become visible in adulthood, such as subtle lethargy, exercise intolerance, breathing difficulty, cardiac enlargement, heart failure, collapse or sudden death.

Practical value of this test

The test is important for breeders and owners who want to manage a serious autosomal recessive risk within a breed line before matings are planned. Carriers are usually healthy or not clearly recognisable, but can pass the variant on unnoticed. By testing breeding dogs beforehand, a carrier can be paired responsibly with a clear partner and carrier-to-carrier matings can be avoided. Because affected dogs may already have been used for breeding before clear signs appear, early testing is especially valuable.

• Clear: the tested variant was not detected.
• Carrier: one copy of the variant is present and can be passed on.
• Affected genotype: two copies cause the tested recessive form.