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Copper Toxicosis (Bedlington Terrier Type)

Copper Toxicosis (Bedlington Terrier Type)

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Test Overview:

Test all breeding Bedlington Terriers for COMMD1 exon 2 deletion and for ATP7B mutation. Avoid breeding two carriers of either genetic variant. Breed carriers only to clear dogs. Prevent breeding of affected dogs. Combine genetic testing with pedigree analysis to preserve genetic diversity and reduce disease prevalence.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

COMMD1 on Chromosome 10

Variant Detected:

c.4358G>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the COMMD1 gene will reliably determine if a dog is a genetic carrier of copper toxicosis.

Research Citation(s):

Forman OP, Boursnell ME, Dunmore BJ, Stendall N, van den Sluis B, Fretwell N, Jones C, Wijmenga C, Rothuizen J, van Oost BA, Holmes NG, Binns MM, Jones P. Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers. Anim Genet. 2005 Dec; 36(6):497-501. [PubMed: 16293123] Godfrey R and Godfrey D. [Internet] Copper Storage Hepatopathy. Universities Federation for Animal Welfare Website. 2012. [cited 3 Dec 2013]. Available at http://www.ufaw.org.uk/COPPERSTORAGEHEPATOPATHYBEDLINGTON.php. Hyun C, Filippich LJ. Inherited canine copper toxicosis in Australian Bedlington Terriers. J Vet Sci. 2004 Mar; 5(1):19-28. [PubMed: 15028882] Lee SA, Fillipich LJ, Hyun C. Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers. J Genet. 2007 Dec; 86(3): 289-91. [PubMed: 18305350] Owen et al. Inherited copper toxicosis in Bedlington Terriers: Wilson’s disease (hepatolenticular degeneration). Am. J. Path. 1982 Mar; 106(3): 432-434 [not in PubMed] Van de Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet. 2002 Jan 15;11(2):165-73 [PubMed: 11809725]

Associated Breed(s):

Bedlington Terrier,

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