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Afibrinogenemia, Variant 1

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Test Overview:

Do not breed affected dogs (homozygous for the FGA mutation) to prevent producing affected puppies. Avoid breeding carrier x carrier dogs, as this carries a 25% risk per litter of producing affected puppies. Breed carriers only to clear (non-carrier) mates, which prevents affected puppies but will produce some carriers. Routine genetic screening of breeding stock in affected breeds is strongly recommended. Breeding programs incorporating genetic testing can eradicate this mutation from the population while maintaining genetic diversity.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

FGA

Variant Detected:

chr15:52601736 (canFam4): 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

Research Citation(s):

Franchini M, Marano G, Pupella S, Vaglio S, Masiello F, Veropalumbo E, Piccinini V, Pati I, Catalano L, Liumbruno GM. Rare congenital bleeding disorders. Ann Transl Med. 2018 Sep;6(17):331. [PubMed: 30306070] Mischke R, Metzger J, Distl O. An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds. Genes (Basel). 2021 Jul 13;12(7):1065. [PubMed: 34356081]

Associated Breed(s):

Dachshund , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair, Mixed Breed,

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