Lundehund syndrom (LS)

Lundehund syndrome is an inherited gastrointestinal disease specific to the Norwegian Lundehund breed. The syndrome is characterized by enteropathy with protein loss (intestinal disease with massive protein leakage into the intestine), intestinal lymphangiectasia (dilation of the lymphatic vessels of the small intestine), digestive tract disorders and inflammatory bowel disease. Clinical signs include diarrhoea, vomiting, weight loss, oedema, and lethargy. The syndrome is often accompanied by decreased albumin and globulin concentrations in the blood profile.

The disease is caused by a missense mutation c.1849G>C in the P3H2 gene.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

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 17:535, 2016. Pubmed reference: 27485430