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Lung Developmental Disease (Discovered in the Airedale Terrier)

Lung developmental disease in Airedale Terriers is characterized by lethal hypoxic respiratory distress and failure that occur within the first days or weeks of life in affected puppies.

Affected Genes: LAMP

Inheritance: Autosomal recessive

Variant(canFam6):
chr34:20181447: C>T

Breed:

General Information: Lung Developmental Disease (Discovered in the Airedale Terrier) is an inherited disorder characterized by abnormal lung development, leading to respiratory issues in affected dogs. Dogs with two copies of the associated gene mutation are predisposed to this condition, which can manifest shortly after birth. Symptoms include difficulty breathing, persistent coughing, poor growth, and lethargy. In severe cases, affected dogs may experience respiratory distress and require intensive veterinary care. This condition can lead to chronic respiratory issues and significantly impact the quality of life. While there is no cure for Lung Developmental Disease, management focuses on supportive care, including respiratory therapies and medications to ease symptoms.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Lung Developmental Disease in Airedale Terriers involves screening for specific mutations in the gene LAMP associated with this condition. This disease is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for identifying carriers and making informed breeding decisions to reduce the incidence of this disease in the breed. To avoid producing affected puppies, it is recommended not to breed two known carriers together. Dogs that are not carriers of the mutation do not have an increased risk of having affected offspring.

References:
Dillard KJ, Ochs M, Niskanen JE, Arumilli M, Donner J, Kyöstilä K, Hytönen MK, Anttila ,M, and Lohi H. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet. 2020 16(3):e1008651.