OMIA 001058-9823 : Von Willebrand disease III in Sus scrofa

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 277480

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: Lehner et al. (2018): "a tandem duplication of exons 17 and 18, causing a frameshift and a premature termination codon (p.Val814LeufsTer3) . . . This duplication putatively originates from porcine SINE elements located within VWF introns 16 and 18 with high identity. The premature termination truncates the VWF open reading frame by a large part, resulting in an almost entire loss of the mature peptide. It is therefore supposed to account for the severe VWD type 3."

Clinical features: Allerkamp et al. (2019) reported that "As compared with WT [wild-type], the ovaries of the VWD type 3 animals showed decreased gene expression of ANG2 and increased gene expression of TIE (tyrosine kinase with immunoglobulin and epidermal growth factor homology domains) 2, with some differences in the ANG/TIE-system among the mutant genotypes. In conclusion, severely reduced VWF seems to evoke angiodysplasia in the porcine uterus. Varying distribution and expression of angiogenic factors suggest that this large animal model is promising for investigation of influence of VWF on angiogenesis in larger groups."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
VWF von Willebrand factor Sus scrofa 5 NC_010447.5 (64516627..64655938) VWF Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
Mixed breed Von Willebrand disease III VWF duplication p.Val814LeufsTer3 "a tandem duplication of exons 17 and 18, causing a frameshift and a premature termination codon (p.Val814LeufsTer3) . . . This duplication putatively originates from porcine SINE elements located within VWF introns 16 and 18 with high identity. 2017 29208651

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Allerkamp, H., Lehner, S., Ekhlasi-Hundrieser, M., Detering, C., Pfarrer, C., von Depka Prondzinski, M. :
Characterization of a Porcine Model for Von Willebrand Disease Type 1 and 3 Regarding Expression of Angiogenic Mediators in the Nonpregnant Female Reproductive Tract. Comp Med :, 2019. Pubmed reference: 31526432. DOI: 10.30802/AALAS-CM-19-000003.
2017 Lehner, S., Ekhlasi-Hundrieser, M., Detering, C., Allerkamp, H., Pfarrer, C., von Depka Prondzinski, M. :
A 12.3 kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3. G3 (Bethesda) :, 2017. Pubmed reference: 29208651. DOI: 10.1534/g3.117.300432.

Edit History


  • Created by Frank Nicholas on 03 Feb 2018
  • Changed by Frank Nicholas on 03 Feb 2018
  • Changed by Frank Nicholas on 20 Sep 2019