Description: The Familiar Nephropathy is a progressive and fatal disease causing kidney failure in English Cocker Spaniels. Until 2 years of age, chronicle destruction of kidneys is forming. First marked symptoms are the increase of thirst, abnormal growth, weight loss, vomiting, and decreased appetite. The disease is caused by molecular abnormalities of collagen type IV in glomerular capilla, where the blood is filtrated in kidneys. A mutation in type IV collagen can disrupt the molecular integrity of the entire collagen network and cause kidney failure.
In connection with the FN disease in English Cocker Spaniels, the one-point substitution of adenine for thymine in position 115 in exon 3 of COL4A4 gene has been described (mutation c.115A˃T), and this mutation results in the creation of premature stop codon. In affected individuals, the peptide products of two genes COL4A3 and COL4A4 are completely absent.
Inheritance: autosomal recessive
Mutation: c.115A˃T in COL4A4 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: American Cocker Spaniel, Australian Labradoodle, Cockapoo, English Cocker Spaniel, Welsh Springer Spaniel
Notes: Nowend et al. (2012) reported a different mutation in the same gene in English Springer Spaniels: “a single nucleotide substitution in COL4A4 gene (c.2713C>T) resulting in a premature stop codon.