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Cobalamin Malabsorption (IGS), Komondor Type
| Acronym: | IGS |
| Gene: | CUBN |
| Mutation: | c.8746+1G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Cobalamin Malabsorption (IGS) is a genetic intestinal metabolic disorder that affects different dog breeds, including Komondor dogs. Cobalamin, also referred to as vitamin B12, is an essential micronutrient for mammals that serves as a cofactor for two enzymes crucial for food metabolism. Deficiency of these cofactors or mutation in those enzymes inhibits them and results in failure to thrive, inappetence, vomiting and/or diarrhea, and weakness. The type of cobalamin malabsorption found in dogs is caused by either mutation in the AMN or CUBN genes. The Komodor type is caused by a single point mutation in the CUBN gene resulting in an inability to process food which causes all types of secondary metabolites to accumulate in the body and disrupts ammonia elimination, glucose homeostasis, and nucleotide synthesis.
This severe metabolic disorder in Komodor dogs 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:
Fyfe, J. C., Hemker, S. L., Frampton, A., Raj, K., Nagy, P. L., Gibbon, K. J., Giger, U. (2018). Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. BMC veterinary research, 14(1), 418. https://doi.org/10.1186/s12917-018-1752-1
Kather, S., Grützner, N., Kook, P. H., Dengler, F., Heilmann, R. M. (2020). Review of cobalamin status and disorders of cobalamin metabolism in dogs. Journal of veterinary internal medicine, 34(1), 13–28. https://doi.org/10.1111/jvim.15638