Pituitary Dwarfism (Karelian Bear Dog Type)
Affected Genes: POU1F1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr31:827087: C>A
Breed: Karelian Bear Dog
General Information: Pituitary Dwarfism (Karelian Bear Dog Type) is an inherited disorder in dogs characterized by stunted growth due to an underdeveloped pituitary gland, which leads to a deficiency in growth hormone production. This condition results from a genetic mutation that affects the normal development and function of the pituitary gland. Dogs with two copies of the associated gene mutation are predisposed to Pituitary Dwarfism, which can manifest early in life. Symptoms include significantly smaller size compared to littermates, delayed physical development, abnormal hair coat, and sometimes other hormonal imbalances. Affected dogs may also exhibit a reduced lifespan and various health complications. While there is no cure for this condition, affected dogs can be managed with hormone replacement therapy and supportive care to improve their quality of life.
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 specific gene associated with Pituitary Dwarfism (Karelian Bear Dog Type) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs 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 informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.
References:
Kyöstilä K, Niskanen JE, Arumilli M, Donner J, Hytönen MK, and Lohi H. Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet. 2021 140(11):1553-1562.