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Lundehund Syndrome

Lundehund Syndrome (LS) is a severe, inherited gastrointestinal disorder predominantly affecting Norwegian Lundehunds.

Affected Genes: LEPREL1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr34:26139641: C>G

Breed: Norwegian Lundehund

General Information: Lundehund Syndrome (LS) is a complex gastrointestinal condition that primarily affects Norwegian Lundehunds, although it can occur in other breeds. The syndrome is typically marked by symptoms such as chronic diarrhea, vomiting, weight loss, and lethargy, appearing between the ages of 2 and 10 years. Some affected dogs may also experience secondary symptoms including hair loss, limb swelling, and fluid accumulation in the abdominal cavity. Diagnostic blood tests often show decreased levels of proteins and calcium, pointing to significant gastrointestinal malabsorption and loss of nutrients. While treatment options like anti-inflammatory medications, specialized diets, and vitamin supplements can manage symptoms, the effectiveness varies. The condition can range from manageable chronic issues to severe cases that may necessitate euthanasia due to poor 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 for Lundehund Syndrome (LS) focuses on identifying mutations in the LEPREL1 gene, which is crucial for diagnosing carriers and affected dogs. This condition follows an autosomal recessive inheritance pattern, meaning that a dog needs to inherit two copies of the mutated gene (one from each parent) to show symptoms of the disease. Carriers of one copy of the mutated gene generally do not exhibit any symptoms but can pass the mutation to their offspring. Breeding two carriers leads to a 25% chance of producing affected puppies and a 50% chance of producing another carrier. To prevent the propagation of this syndrome, it is recommended that carriers not be bred with each other. Genetic testing prior to breeding is essential for making informed decisions to minimize the occurrence of this syndrome in future generations and to maintain the health of the breed. Dogs without the mutation are at no risk of developing or transmitting the syndrome to their offspring.

References:
Berghoff N, Ruaux CG, Steiner JM, Williams DA. (2007). Gastroenteropathy in Norwegian Lundehund. Compendium (Yardley, PA). 29. 456-465, 468-470.

Metzger J, Pfahler S, Distl O. Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome. BMC Genomics 2016 17:535.