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Lethal lung disease (LLD / LAMP3) - Airedale Terrier
| Acronym: | LLD |
| Gene: | LAMP3 |
| Mutation: | c.1159G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Lethal Lung Disease (LLD/LAMP3) is a genetic lung disorder found in dogs similar to lung diseases due to abnormal surfactant biogenesis previously reported in humans. LLD is a novelly discovered disease firstly reported and studied in Airedale Terriers. It causes lethal hypoxia in respiratory system and lung failure occurring within the first days or weeks of life. The cause of this lethal lung disease in AT dogs is a missense variant in lysosome associated membrane 3 (LAMP3) gene. LAMP3 is a structural membrane protein of the surfactant organelles that are essential in forming a thin surface lining film in the gas exchange in the lungs.
LLD in Airedale Terrier is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required 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 prevent the future development of this lethal disease in 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:
Dillard, K. J., Ochs, M., Niskanen, J. E., Arumilli, M., Donner, J., Kyöstilä, K., Hytönen, M. K., Anttila, M., & Lohi, H. (2020). Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS genetics, 16(3), e1008651. https://doi.org/10.1371/journal.pgen.1008651