Intestinal Cobalamin Malabsorption (Komondor Type)
Affected Genes: CUBN
Inheritance: Autosomal Recessive
Variant(canFam6):
chr2:17090998: G>A
Breed: Komondor
General Information: Intestinal Cobalamin Malabsorption (Komondor Type) is an inherited disorder in dogs characterized by the inability to absorb vitamin B12 (cobalamin) from the intestines. This condition leads to a deficiency of vitamin B12, which is essential for normal cell function, particularly in the bone marrow and gastrointestinal tract. Affected dogs typically exhibit symptoms such as poor growth, weight loss, lethargy, lack of appetite, diarrhea, and anemia. These symptoms can appear in puppies as young as a few weeks old. Early diagnosis and treatment with cobalamin supplementation are crucial to manage the condition and prevent severe health issues.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Intestinal Cobalamin Malabsorption (Komondor Type) can determine if a dog carries the gene mutation responsible for this condition. The disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to be affected. Dogs with only one copy of the mutation (carriers) typically do not show symptoms but can pass the mutated gene to their offspring. When two carrier dogs are bred, each puppy has a 25% chance of being affected by the disease, a 50% chance of being a carrier, and a 25% chance of being completely clear of the mutation. Reliable genetic testing is essential for responsible breeding practices to prevent the spread of this condition, and breeding two carriers together is not recommended to avoid producing affected puppies. Dogs that test negative for the mutation do not carry the gene and have no increased risk of producing affected offspring.
References:
Fyfe JC, Hemker SL, Frampton A, Raj K, Nagy PL, Gibbon KJ, and Giger U. Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. BMC Vet Res. 2018 14:418.