Warburg Micro syndrome 1 / WARBM1 (RAB3GAP1-related) - Alaskan Husky

What does this test examine?

This genetic test detects the RAB3GAP1 variant c.614_615insLN864704:g.123_340 that causes Warburg Micro syndrome 1 in Alaskan Huskies. The condition is also known as WARBM1 and belongs to the broader Warburg Micro syndrome spectrum, in which eye development, nervous system function and motor development can be affected.

Affected dogs can show serious neurological and developmental problems, including eye or vision abnormalities, motor dysfunction, coordination problems and delayed development. Because this is an inherited disorder, identifying carriers is important for avoiding high-risk breeding combinations.

Practical value of this test

• Helps Alaskan Husky breeders identify carriers before planning a mating.
• Prevents two carriers from being paired unknowingly, which can produce puppies affected with Warburg Micro syndrome 1.
• Provides clear information for selection, litter planning and communication with puppy buyers.
• Supports veterinarians and breeders when neurological or developmental problems occur in lines where this variant is present.

Inheritance and interpretation

WARBM1 is inherited as an autosomal recessive disorder. A dog with two normal copies is clear for the tested variant. A carrier has one normal and one altered copy and is usually not clinically affected, but can pass the variant on. A dog with two altered copies develops the disorder.