Test Detail

Lethal interstitial lung disease of the Airedale terrier, presenting neonatally or very early, caused by a mutation in the LAMP3 gene (lysosomal-associated membrane protein 3), involved in type II pneumocyte function and surfactant metabolism. Affected puppies develop severe respiratory failure and usually die in the first days or weeks of life.

Affected breed: Airedale terrier. Limited data on the population frequency of carriers.

- Test breeding dogs with the LAMP3 test before mating\n- Do not mate two carriers: 25% risk of lethal affected homozygotes\n- A carrier can be mated to a clear dog; offspring intended for breeding must be tested\n- Exclude affected animals and their known carrier parents from breeding\n- Prioritize genetic diversity when replacing carriers with clear offspring

Differential diagnosis with other causes of neonatal respiratory distress: sepsis, congenital pneumonia, pulmonary dysplasia, aspiration and diaphragmatic hernia. Pulmonary histopathology is suggestive; confirmation is genetic by LAMP3 test. In litters with neonatal respiratory mortality, investigate the status of the parents.

1. Dillard KJ, Ochs M, Niskanen JE, Arumilli M, Donner J, Kyöstilä K, Hytönen MK, Anttila M, Lohi H. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet 16(3):e1008651, 2020. PMID: 32150563
2. OMIA:002251-9615. Surfactant metabolism dysfunction, pulmonary in Canis lupus familiaris. https://omia.org/OMIA002251/9615/