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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 231200 (trait) , 173515 (gene)

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_051824.1 (3050338..3048622) 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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1097 Cocker Spaniel Bernard-Soulier syndrome, type C GP9 deletion, gross (>20) Naturally occurring variant CanFam3.1 20 g.3025814_3028273del c.127_*2052del XM_846924.3; Gentilini et al. (2019): "The [2460bp] 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
  • Changed by Imke Tammen2 on 14 Jul 2021