Renal cystadenocarcinoma and nodular dermatofibrosis (RCND) in German Shepherds

Renal cystadenocarcinoma is one of the most common tumours in dogs, in German Shepherds it is often associated with nodular dermatofibrosis. The disease is characterized by bilateral multifocal renal tumors, uterine fibroids and nodule formation in the skin consisting of dense collagen fibres.

The disease is caused by an A>G base substitution in exon 7 of the FLCN gene (previously BHD gene). The causative variant is designated as c.764A>G or p.His255Arg.

Inheritance of the mutation is autosomal dominant. This means that one copy of the mutated gene inherited from one parent is sufficient to cause symptoms of 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:

Lingaas, F., Comstock, K.E., Kirkness, E.F., Sørensen, A., Aarskaug, T., Hitte, C., Nickerson, M.L., Moe, L., Schmidt, L.S., Thomas, R., Breen, M., Galibert, F., Zbar, B., Ostrander, E.A. : A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. Hum Mol Genet 12:3043-53, 2003. Pubmed reference: 14532326