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."

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

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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
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

Reference


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