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Bernard-Soulier Syndrome (Cocker Spaniel Type)

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Test Overview:

Do not breed affected dogs that are homozygous for the GP9 mutation. Avoid carrier x carrier matings due to the 25% risk of producing affected puppies. Breed carriers only to genetically clear (non-carrier) dogs; offspring may be carriers but not affected. Genetic screening of breeding stock in Cocker Spaniels is strongly recommended to identify carriers and support responsible breeding to reduce disease incidence. Breed clubs and veterinary genetic services can provide guidance to preserve genetic diversity while controlling the mutation.

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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