OMIA 002207-9615 : Bernard-Soulier syndrome, type C in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 231200

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Gentilini et al. (2019): "Whole genome sequencing of one affected dog and visual inspection of the [comparative] candidate genes identified a deletion in the glycoprotein IX platelet (GP9) gene. The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. Variants in human GP9 are associated with Bernard-Soulier syndrome, type C. The deletion spanned 2460 bp, and included a significant part of the single coding exon of the canine GP9 gene on dog chromosome 20. The variant results in a frameshift and premature stop codon which is predicted to truncate almost two-thirds of the encoded protein. PCR-based genotyping confirmed recessive inheritance. The homozygous variant genotype seen in affected dogs did not occur in 98 control Cocker Spaniels."

Clinical features: Gentilini et al. (2019): "The affected dogs showed a platelet adhesion defect characterized by macrothrombocytopenia with variable platelet counts resembling human Bernard-Soulier syndrome (BSS). Furthermore, the lack of functional GPIb-IX-V was demonstrated by immunocytochemistry."

Prevalence: Gentilini et al. (2019): "the prevalence of the variant allele [in a sample of Cocker Spaniels from Switzerland and Italy] was 4.6% with a distribution of genotypes frequencies of 91.8% of homozygous wild-type, 7.1% of heterozygous and 1% of homozygous variant".

Breed: Cocker Spaniel.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GP9 glycoprotein IX (platelet) Canis lupus familiaris 20 NC_006602.3 (3029496..3027790) GP9 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cocker Spaniel Bernard-Soulier syndrome, type C GP9 deletion, gross (>20) CanFam 3.1 20 g.3,025,814_3,028,273del2460 Gentilini et al. (2019): "The deletion truncates 104 (71%) of the 146 codons of the wildtype canine reading frame." 2019 31484196

Reference


2019 Gentilini, F., Turba, M.E., 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 14:e0220625, 2019. Pubmed reference: 31484196. DOI: 10.1371/journal.pone.0220625.

Edit History


  • Created by Frank Nicholas on 12 Sep 2019
  • Changed by Frank Nicholas on 12 Sep 2019