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Recurrent inflammatory pulmonary disease (IPD) - Rough Collie Type
| Acronym: | IPD |
| Gene: | AKNA |
| Mutation: | c.2717_2720delACAG |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Recurrent inflammatory pulmonary disease (IPD) in Rough Collies is an inherited autoimmune inflammatory lung disease with clinical symptoms similar to primary ciliary dyskinesia (PCD). Symptoms develop shortly after birth and can include recurrent foamy vomiting, shallow breathing, coughing, increased breathing sounds, nasal discharge and fever. Although IPD is often a consequence of PCD there is a type of recurrent inflammatory pulmonary disease recognized in Rough Collies that is not caused by primary ciliary disfunction. This type of IPD is caused by a genetic frame-shift mutation (4 base pair deletion) in the AKNA gene that encodes a protein called AT-hook transcription factor. The deletion results in the formation of a premature stop codon that terminates translation early, producing a truncated protein product. The AT-hook transcription factor is involved in the regulation of inflammatory responses. The truncated form of the protein results in aberrant regulatory function leading to autoimmune responses in the respiratory tract.
This type of autoimmune IPD is inherited as an autosomal recessive trait. This means that two copies of the mutated gene are required for the disease to develop. Rough Collies with only one copy of the mutated gene will not develop the disease but act as carriers that can potentially pass the mutation to their offspring. Early detection by genetic testing can identify Rough Collies that carry the mutation and inform the breeders decisions when selecting mating pairs. This can be used to avoid the unintentional breeding of affected puppies.
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:
Hug, Petra et al. “AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease.” Genes vol. 10,8 567. 26 Jul. 2019, doi:10.3390/genes10080567