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A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers.

Abstract Von Willebrand disease (VWD), caused by deficiency of the von Willebrand factor (VWF), is the most common bleeding disorder in humans and dogs. The complete cDNA encoding VWF of a German Wirehaired Pointer with type 2 VWD was sequenced, and we found four variants that alter the amino acid sequence. These variants were: c.1657T>G corresponding to p.Trp553Gly; c.1777G>A (p.Glu593Lys); c.4937A>G (p.Asn1646Ser) and c.5544G>A (p.Met1848Ile). A haplotype of the c.1657G, c.1777A and c.4937G alleles co-segregated with the VWF antigen level in a four-generation pedigree with the disease. Healthy dogs of the breed were found that were homozygous for the c.1777A or the c.5544A allele, indicating that these variants do not cause VWD. Dogs that were homozygous for the c.4937G allele and had no signs of a bleeding disorder were observed in the Chinese Crested dog breed. Thus, only the c.1657G variant was found in the homozygous state exclusively in VWD affecteds, and this variant is the strongest candidate to be the cause of VWD type 2 in the German Wirehaired Pointer breed. A screen of German Shorthaired Pointers indicated that the variant also segregates with VWD in this breed.
PMID
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Authors

Mayor MeshTerms
Keywords

bleeding disorder

canine

dog

gene

mutation

single base extension

Journal Title animal genetics
Publication Year Start




PMID- 28696025
OWN - NLM
STAT- MEDLINE
DA  - 20170711
DCOM- 20170724
LR  - 20170724
IS  - 1365-2052 (Electronic)
IS  - 0268-9146 (Linking)
VI  - 48
IP  - 4
DP  - 2017 Aug
TI  - A novel VWF variant associated with type 2 von Willebrand disease in German
      Wirehaired Pointers and German Shorthaired Pointers.
PG  - 493-496
LID - 10.1111/age.12544 [doi]
AB  - Von Willebrand disease (VWD), caused by deficiency of the von Willebrand factor
      (VWF), is the most common bleeding disorder in humans and dogs. The complete cDNA
      encoding VWF of a German Wirehaired Pointer with type 2 VWD was sequenced, and we
      found four variants that alter the amino acid sequence. These variants were:
      c.1657T>G corresponding to p.Trp553Gly; c.1777G>A (p.Glu593Lys); c.4937A>G
      (p.Asn1646Ser) and c.5544G>A (p.Met1848Ile). A haplotype of the c.1657G, c.1777A 
      and c.4937G alleles co-segregated with the VWF antigen level in a four-generation
      pedigree with the disease. Healthy dogs of the breed were found that were
      homozygous for the c.1777A or the c.5544A allele, indicating that these variants 
      do not cause VWD. Dogs that were homozygous for the c.4937G allele and had no
      signs of a bleeding disorder were observed in the Chinese Crested dog breed.
      Thus, only the c.1657G variant was found in the homozygous state exclusively in
      VWD affecteds, and this variant is the strongest candidate to be the cause of VWD
      type 2 in the German Wirehaired Pointer breed. A screen of German Shorthaired
      Pointers indicated that the variant also segregates with VWD in this breed.
CI  - (c) 2017 Stichting International Foundation for Animal Genetics.
FAU - Vos-Loohuis, M
AU  - Vos-Loohuis M
AD  - Department of Veterinary Medicine of Companion Animals, Faculty of Veterinary
      Medicine, Utrecht University, PO Box 80154, 3508TD, Utrecht, the Netherlands.
FAU - van Oost, B A
AU  - van Oost BA
AD  - Department of Veterinary Medicine of Companion Animals, Faculty of Veterinary
      Medicine, Utrecht University, PO Box 80154, 3508TD, Utrecht, the Netherlands.
FAU - Dangel, C
AU  - Dangel C
AD  - Laboklin Labor fur Klinische Diagnostik GmbH & Co. KG, Steubenstrasse 4, 97688,
      Bad Kissingen, Germany.
FAU - Langbein-Detsch, I
AU  - Langbein-Detsch I
AD  - Laboklin Labor fur Klinische Diagnostik GmbH & Co. KG, Steubenstrasse 4, 97688,
      Bad Kissingen, Germany.
FAU - Leegwater, P A
AU  - Leegwater PA
AD  - Department of Veterinary Medicine of Companion Animals, Faculty of Veterinary
      Medicine, Utrecht University, PO Box 80154, 3508TD, Utrecht, the Netherlands.
LA  - eng
PT  - Journal Article
DEP - 20170203
PL  - England
TA  - Anim Genet
JT  - Animal genetics
JID - 8605704
RN  - 0 (von Willebrand Factor)
SB  - IM
MH  - Alleles
MH  - Animals
MH  - Breeding
MH  - Dog Diseases/*genetics
MH  - Dogs/*genetics
MH  - Pedigree
MH  - von Willebrand Disease, Type 2/*genetics
MH  - von Willebrand Factor/*genetics
OTO - NOTNLM
OT  - bleeding disorder
OT  - canine
OT  - dog
OT  - gene
OT  - mutation
OT  - single base extension
EDAT- 2017/07/12 06:00
MHDA- 2017/07/25 06:00
CRDT- 2017/07/12 06:00
PHST- 2016/12/22 [accepted]
AID - 10.1111/age.12544 [doi]
PST - ppublish
SO  - Anim Genet. 2017 Aug;48(4):493-496. doi: 10.1111/age.12544. Epub 2017 Feb 3.