Ichthyosis in German Shepherds

Ichthyoses are a heterogeneous group of genetically determined dermatoses characterized by abnormal scaling of the skin all over the body. The name ichthyosis comes from the Greek word for fish “ichtys”, because the peeling skin often resembles fish scales. Clinical signs in German Shepherds include impaired hair growth, patchy hair loss, mild reddening of the skin and plugged sebaceous glands on the abdomen.

In German Shepherds, the disease is caused by a missense mutation, c.1052T>C, in the ASPRV1 gene, which encodes a protease for processing filaggrin, a component of the epithelium important for skin integrity.

Inheritance of the mutation is autosomal dominant. This means that one copy of the mutated gene inherited from one parent is enough to cause symptoms of the disease. A genetic test can clearly reveal the genotype of an animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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Reference:

Bauer, A., Waluk, D.P., Galichet, A., Timm, K., Jagannathan, V., Sayar, B.S., Wiener, D.J., Dietschi, E., Müller, E.J., Roosje, P., Welle, M.M., Leeb, T. : A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet 13:e1006651, 2017. Pubmed reference: 28249031