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Bernard-Soulier syndrome (BSS) - English Cocker Spaniel type
| Acronym: | BSS |
| Gene: | GP9 |
| Mutation: | c.127_*2052del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Bernard-Soulier syndrome (BSS) is an inherited haemorrhagic disorder that affects certain mammalian species including dogs and humans. Inherited genetic mutations are the most common cause of BSS. The causative mutation in many dog breeds remains unknown with English Cocker Spaniels being the exception. In English Cocker Spaniels symptoms range from mild to severe. The affected dogs show a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts. BSS often presents early in life with symptoms such as bleeding from the snout, bruising and uterine, gingival, gastrointestinal, musclular or visceral bleeding. BSS in English Cocker Spaniels is caused by a large deletion in the GP9 gene that encodes the glycoprotein IX, a subunit in the platelet surface membrane glycoprotein complex. This frameshift mutation results in the formation of a premature stop codon, producing a truncated version of the protein. The truncated form of the protein loses its function which leads to a defect in the activation of certain coagulation pathways and the maintainance of hemostasis.
BSS in English Cocker Spaniels is inherited as an autosomal recessive trait. This means that two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the mutated gene won’t develop the disease but act as carriers that can potentially pass the mutation to their offspring. Early detection by genetic testing can identify carriers and inform the breeders’ decision when selecting mating pairs. This can be used to avoid unintentional breeding of affected puppies.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Gentilini F, Turba ME, Giancola F, Chiocchetti R, Bernardini C, Dajbychova M, et al. (2019) A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. PLoS ONE 14(9): e0220625. https://doi.org/10.1371/journal.pone.0220625