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Complement Component 3 Deficiency (C3 Deficiency)
| Acronym: | C3D |
| Gene: | C3 |
| Mutation: | c.2136delC |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Complement Component 3 Deficiency, or shorter C3 Deficiency, is a genetic disorder characterized by a predisposition to recurrent bacterial infections and the development of glomerular disease. Deficiencies of C3 have been reported in humans and several animals, including guinea pigs, dogs, and rabbits. The complement system is a central part of innate immunity and is important for defense against infectious agents. The third complement component (C3) is a multifunctional glycoprotein that interacts with numerous serum proteins, cell surface receptors, and membrane-associated regulatory proteins and plays a critical role in the generation of the inflammatory and protective functions of the complement system. The cause of disease in dogs is a mutation in the gene that encodes C3 resulting in a frameshift and premature termination of the protein. Affected dogs are noted to have extremely low amounts of C3 in their serum and reduced levels of other C3 activities.
This innate immunity disorder is inherited as an autosomal recessive trait, requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Ameratunga, R., Winkelstein, J. A., Brody, L., Binns, M., Cork, L. C., Colombani, P., Valle, D. (1998). Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. Journal of immunology (Baltimore, Md. : 1950), 160(6), 2824–2830.
Gerber, B., Eichenberger, S., Joller-Jemelka, H. I., Wittenbrink, M. M., Reusch, C. E. (2010). Complement C3 in Bernese Mountain dogs. Veterinary clinical pathology, 39(2), 164–168. https://doi.org/10.1111/j.1939-165X.2009.00205.x