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Lagotto Storage Disorder

Lagotto Storage Disorder is an inherited metabolic disease affecting Lagotto Romagnolo dogs, characterized by progressive neurological symptoms due to the accumulation of cellular material, with symptoms typically appearing between 1 and 5 years of age.

Affected Genes: ATG4D

Inheritance: Autosomal Recessive

Variant(canFam6):
chr20:50491225: C>T

Breed: Lagotto Romagnolo

General Information: Lagotto Storage Disorder is an inherited metabolic disorder in dogs characterized by the inadequate production of an enzyme essential for the degradation, storage, and removal of cellular material. This deficiency leads to the accumulation of cellular material in various body cells, including the nervous system. As a result, affected dogs develop a progressive neurological disease typically presenting between 1 and 5 years of age. Clinical signs include abnormal gait, weak or absent reflexes, limb weakness, behavioral changes, nystagmus, aggression, and restlessness.

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 ATG4D gene can identify carrier dogs of Lagotto Storage Disorder. This disorder is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for a dog to develop the disease. Carriers typically show no symptoms but can produce affected pups if bred with another carrier. Each pup from such a pairing has a 25% chance of having the disease and a 50% chance of being a carrier. Therefore, genetic testing before breeding is crucial to avoid producing affected puppies, and breeding two carriers together is not recommended.

References:
Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet. 2015 11(4):e1005169.

Syrjä P, Anwar T, Jokinen T, Kyöstilä K, Jäderlund KH, Cozzi F, Rohdin C Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Sukura A, Leeb T, Lohi H, Eskelinen EL. Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation. Vet Pathol. 2017 54(6):953-963.