Polyneuropathy / LPN1 (ARHGEF10-related) - Leonberger and Saint Bernard

What does this test analyse?

This genetic test analyses the ARHGEF10 c.1955_1958+6delCACGGTGAGC variant for polyneuropathy / LPN1 in Leonberger and Saint Bernard dogs. ARHGEF10 plays a role in nerve development and axonal function; the tested deletion disrupts normal splicing.

What does this condition mean?

LPN1 is a severe progressive polyneuropathy in which peripheral nerves do not function properly. Dogs can develop reduced exercise tolerance, high-stepping or abnormal gait, hindlimb muscle loss, weakness, low muscle tone, reduced reflexes and sometimes laryngeal paralysis with noisy breathing. The condition is also described as inherited polyneuropathy, ILPN, Leonberger polyneuropathy type 1 and a Charcot-Marie-Tooth-like disorder.

Inheritance and result

The trait is inherited as an autosomal recessive condition. Carriers are usually not clinically affected but can pass the variant on. Two copies cause the tested LPN1 form.

Practical value of this test

• Enables safe breeding combinations in breeds where LPN1 occurs.
• Helps avoid accidentally combining two carriers.
• Clarifies status in lines with polyneuropathy, laryngeal paralysis or young dogs with gait problems.
• Keeps healthy carriers usable when combined with clear partners.
• Makes genetic status visible for buyers, breeders, breed clubs and long-term selection.