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Bernard-Soulier Syndrome (Cocker Spaniel Type)

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Test Overview:

Bernard-Soulier Syndrome is an inherited bleeding disorder affecting dogs. Affected dogs typically present between 2 to 4 years of age with variable signs of bleeding. Commonly, this will be prolonged bleeding and formation of a hematoma, or large blood clot, after a routine blood draw during a veterinary exam. Other signs can include episodes of bleeding in the mouth around the gums and nosebleeds. Veterinary findings of dogs affected with Bernard-Soulier Syndrome include variable to low platelet and red blood cell counts along with abnormally large Platelets seen during a microscopic exam of a blood sample. Severe, and sometimes life threatening, bleeding can occur in response to trauma or during routine surgery of these dogs. Whelping may result in severe episodes in female dogs. Treatment is mostly supportive but may require one or more blood transfusions depending on the severity of the episode. With appropriate management, these dogs can experience a good quality of life.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

GP9 gene, chr20

Variant Detected:

chr20:3053455-3055914 (canFam4): 2460 bp deletion

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 Recessive

Research Citation(s):

Gentilini F, Turba ME, Giancola F, Chiocchetti R, Bernardini C, Dajbychova M, Jagannathan V, Drögemüller M, Drögemüller C. A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS One. 2019 Sep 4;14(9): e0220625. [PubMed: 31484196]

Associated Breed(s):

American Cocker Spaniel, Cockapoo, Cocker Spaniel, Mixed Breed, Spoodle,

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