Newfoundland Cystinuria (CYS)
Type IA Cystinuria, Cystinuria (Newfoundland Type)
Cystinuria in the Newfoundland dog is indicated by the presence of cystine stones in the kidney, bladder, or ureter. Failure by the kidneys to reabsorb amino acids results in the formation of these stones. In this disorder, the kidneys do not adequately reabsorb certain amino acids during the filtering process, thus resulting in excess excretion of these amino acids. The amino acids may precipitate and form crystals or stones in the kidneys, ureters, or bladder.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Newfoundland Cystinuria nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Newfoundland Cystinuria but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Newfoundland Cystinuria and are susceptible to developing bladder and kidney stones.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
SLC3A1
Chromosome
Ch. 10
Mutation
C.586C>T
Publication:
Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet. 2000 Oct; 107(4):295-303. [PubMed: 11129328]
