Charcot-Marie-Tooth neuropathy / CMT (SBF2-related) - Miniature Schnauzer

What does this test examine?

This genetic test analyses the SBF2 c.2363+1G>T variant in the Miniature Schnauzer. The condition is called Charcot-Marie-Tooth neuropathy, abbreviated CMT, and is also described as demyelinating polyneuropathy, CMT type 4B2 or SBF2/MTMR13-related polyneuropathy.

What does this mean for the dog?

SBF2 is important for normal peripheral nerve function and for the myelin sheath around nerve fibres. Dogs with two copies of the tested variant develop inherited demyelinating polyneuropathy. Reported problems include regurgitation caused by megaoesophagus, a hoarse or absent bark caused by laryngeal paralysis, breathing difficulty, exercise intolerance, vomiting and risk of aspiration pneumonia. The first signs are often seen in young dogs.

Practical value of this test

• The result distinguishes clear dogs, carriers and genetically affected dogs.
• Breeders can identify carriers and plan matings that avoid affected puppies.
• The test is especially useful in Miniature Schnauzer lines with neurological, oesophageal or respiratory problems.
• Early genetic clarity supports breeding selection and follow-up planning.

Inheritance and result

Charcot-Marie-Tooth neuropathy caused by this SBF2 variant is inherited as an autosomal recessive trait. A dog with G/G does not carry the variant, G/T is a carrier and T/T causes the genetically affected genotype.