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Complement 3 Deficiency

Complement 3 Deficiency is an inherited immune disorder in dogs, particularly affecting the Brittany breed, causing susceptibility to recurrent bacterial infections and early-onset kidney disease.

Affected Genes: C3

Inheritance: Autosomal Recessive

Variant(canFam6):
chr20:53321990: 1 bp deletion C

Breed: Brittany

General Information: Complement 3 Deficiency is an inherited immune system disorder, primarily seen in Brittany dogs, caused by a lack of the protein complement component 3 (C3), which is crucial for preventing bacterial infections. Affected dogs often present with symptoms in early life, including recurrent bacterial infections such as pneumonia, urinary tract infections, and uterine infections. This condition also predisposes dogs to early-onset kidney disease, which can progress to chronic kidney failure and ultimately lead to death. Symptoms include frequent infections, lethargy, and signs of kidney dysfunction. Early diagnosis and management are essential to mitigate the risk of severe health complications in affected dogs.

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 of the C3 gene can identify whether a dog is a carrier of Complement 3 Deficiency (C3D), an autosomal recessive disorder. Dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, which possess only one copy of the mutation, typically do not show symptoms but can pass the mutation to their offspring. Breeding two carriers together increases the risk of producing affected puppies, with each pup having a 25% chance of inheriting the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to prevent the birth of affected puppies. To eliminate this mutation from breeding lines and reduce the risk of producing affected pups, it is recommended to avoid breeding two known carriers together. Dogs without the mutation do not have an increased risk of having affected offspring, ensuring a healthier lineage free from C3D.

References:
Ameratunga R, Winkelstein JA, Brody L, Binns M, Cork LC, Colombani P, Valle D. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. Journal of Immunology. 1998 160: 2824-2830.

Cork LC, Morris JM, Olson JL, Krakowka S, Swift AJ, Winkelstein JA. Membranoproliferative glomerulonephritis in dogs with a genetically determined deficiency of the third component of complement. Clin Immunol Immunopathol. 1991 60(3):455-470.

Johnson JP, McLean RH, Cork LC, Winkelstein JA. Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. Am J Med Genet. 1986 25(3):557-562.