Affected gene: FLCN
Inheritance: Autosomal Dominant
Mutation: CanFam3.1    5    g.42186445A>G    c.764A>G
OMIA link: 001335-9615
 
Breeds suitable for testing: German Shepherd, White Swiss Shepherd, Shiloh Shepherd
 
Symptoms:
This disease is characterized by tumors in the kidneys and uterus and nodules in the skin consisting of dense collagen fibers. Symptoms begin around the age of 5, and tumors may not develop until dogs are 9 to 11 years old. Dogs die around the age of 9-10 due to kidney failure or metastasis. Puppies that carry two copies of the FLCN gene mutation are likely to die during gestation, resulting in a reduction in litter size.
 
References:
Jónasdóttir TJ, Mellersh CS, Moe L, Heggebø R, Gamlem H, Ostrander EA, Lingaas F. Genetic mapping of a naturally occurring hereditary renal cancer syndrome in dogs. Proc Natl Acad Sci U S A. 2000 Apr 11; 97(8):4132-7. [PubMed: 10759551]
Lingaas F, Comstock KE, Kirkness EF, Sørensen A, Aarskaug T, Hitte C, Nickerson ML, Moe L, Schmidt LS, Thomas R, Breen M, Galibert F, Zbar B, Ostrander EA. 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. 2003 Dec 1; 12(23):3043-53. [PubMed: 14532326]