Primary ciliary dyskinesia (PCD) in Australian Shepherds

Primary ciliary dyskinesia is a disease characterized by a lack of cilia function in the epithelial mucosa. The disease presents with nasal discharge and chronic respiratory infections that require repeated treatment. Clinical signs begin to appear in puppies at approximately 8 weeks of age.

The disease is caused by mutation c.2868-1G>A in the STK36 gene, which encodes serine/threonine kinase 36.

The mode of inheritance of the mutation is probably 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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Reference:

Christen, M., Ludwig-Peisker, O., Jagannathan, V., Hetzel, U., Schönball, U., Leeb, T. : STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Anim Genet 54:412-415, 2023. Pubmed reference: 36786090