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Recurrent Inflammatory Pulmonary Disease

Recurrent Inflammatory Pulmonary Disease is an inherited disorder affecting dogs such as Collie, Rough Collie, Smooth Collie, characterized by early-life onset of respiratory symptoms such as coughing, nasal discharge, fever, vomiting, and noisy breathing.

Affected Genes: AKNA

Inheritance: Autosomal Recessive

Variant(canFam6):
chr11:66979174-66979177: 4 bp deletion CTGT

Breed: Collie
Rough Collie
Smooth Collie

General Information: Recurrent inflammatory pulmonary disease is an inherited condition in dogs, manifesting within the first week of life with respiratory symptoms such as coughing, nasal discharge, fever, vomiting, and noisy breathing. While responsive to treatment, affected dogs often experience rapid relapse once treatment ceases, necessitating ongoing medical management for some individuals throughout their lifespan.

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 of the AKNA gene can identify carriers of recurrent inflammatory pulmonary disease in dogs, which is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for disease development. Carrier dogs typically do not show symptoms but can produce affected offspring if bred with another carrier, with each pup having a 25% chance of inheriting the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for responsible breeding decisions, and it is advised against breeding known carriers together to prevent producing affected pups. Dogs without the mutation do not face an increased risk of having affected offspring.

References:
Hug P, Anderegg L, Kehl A, Jagannathan V, Leeb T. AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease. Genes (Basel) 2019 10(8). pii: E567.