Deutsch
Hrvatski
Русский
Português
Canine Leukocyte Adhesion Deficiency (CLAD3), Type 3 - German Shepherd Type
| Acronym: | CLAD3 |
| Gene: | FERMT3 |
| Mutation: | c.1349_1350insAAGACGGCTGCC |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Canine leukocyte adhesion deficiency (CLAD) is a primary genetic immunodeficiency characterized by severe recurrent infections despite a marked leukocytosis. It is caused by a defect in a surface molecule expressed by neutrophils which allows them to attach to vessel walls and move into tissues. Affected individuals have persistently high leukocyte counts and are susceptible to infections. The genetic defect described above has only been described in small number of dog breeds including German Shepherd dogs. CLAD type 3 is a consequence of a variant in the canine Kindlin-3 (KINDLIN3), also known as FERMT3, a gene that encodes a protein essential in the organisation of focal adhesions that mediate cell-extracellular matrix junctions of hematopoietic cells.
The German Shepherd type of canine leukocyte adhesion deficiency 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:
Boudreaux, M. K., Wardrop, K. J., Kiklevich, V., Felsburg, P., Snekvik, K. (2010). A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections. Thrombosis and haemostasis, 103(2), 475–477. https://doi.org/10.1160/TH09-09-0571
Foureman, P., Whiteley, M., and Giger, U. (2002). Canine leukocyte adhesion deficiency: presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters. J. Vet. Intern. Med. 16, 518–523.