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Alport Syndrome/ Hereditary Nephritis (Samoyed Type)

Alport Syndrome/ Hereditary Nephritis (Samoyed Type)

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Test Overview:

Do not breed affected males who carry the mutation, as all their daughters will be carriers and sons will be affected if inherited. Avoid breeding carrier females to affected or carrier males to minimize affected offspring. Breeding carrier females to genetically clear (non-carrier) males reduces the risk of affected puppies. Use genetic testing of all breeding stock in Samoyed lines to identify carriers and guide responsible breeding programs. Aim to reduce the frequency of the mutant allele in the breed while maintaining genetic diversity through careful selection.

Category:

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

Gene:

COL4A5 on Chromosome 5

Variant Detected:

G to T substitution in exon 35 g.85286582_3insC and g.85286582delC

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Research Citation(s):

Am J Pathol. 1991 Oct;139(4):751-64. [PubMed: 1928300]
Can J Vet Res. 1987 Jul;51(3):387-93. [PubMed: 3651895]
Zheng K, Thorner PS, Marrano P, Baumal R, McInnes RR.
Proc Natl Acad Sci USA. 1994 Apr 26;91(9):3989-9. [PubMed: 8171024]

Associated Breed(s):

Mixed Breed, Samoyed,

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