A rodenticide exposed and bleeding Beagle dog with hereditary factor VII deficiency

Daly, Meredith L.; Giger, Urs

doi:10.1111/j.1476-4431.2006.00216.x

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…As this factor resides in the extrinsic cascade, it affects the PT and not the PTT. In FVII deficient human patients several mutations in the F7 gene have been described, while the very same point missense mutation has been found in all affected domestic dog breeds including Beagles, Scottish deerhounds, Alaskan Klee Kai and others (Callan et al 2006, Daly and Giger 2007, Kaae et al 2007). …”

Section: Introductionmentioning

confidence: 86%

“…Other hereditary coagulopathies, such as Factor VII deficiency, are generally milder and far less commonly reported in humans but may occur more frequently in several dog breeds (Triplett et al 1985, Callan et al 2006, Donner et al 2016). Hereditary FVII deficiency is an autosomal recessive trait, and causes a mild bleeding tendency mostly after trauma and surgery (Triplett et al 1985, Callan et al 2006, Daly and Giger 2007). As this factor resides in the extrinsic cascade, it affects the PT and not the PTT.…”

Section: Introductionmentioning

confidence: 99%

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HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY AF7MISSENSE MUTATION

Lynch

McGrath

Raj

et al. 2017

Journal of Wildlife Diseases

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Hereditary disorders and genetic predispositions to disease are rarely reported in captive and free-ranging wildlife and none have been definitively identified and characterized in elephants. A wild-caught, 41-yr-old male Asian elephant (Elephas maximus) without an apparent increased bleeding tendency was consistently found to have prolonged prothrombin times (mean PT=55±35 s) compared to 17 other elephants (PT=10±2 s). This elephant's partial thromboplastin times (PTT) fell within the normal range of the other elephants (12–30 s). A prolonged PT in the presence of a normal PTT suggests disruption of the extrinsic pathway via deficiency of coagulation factor VII (FVII). This elephant's plasma FVII activity was very low (2%) compared to that of 15 other elephants (57–80%), but other coagulation factors activities did not differ from the control elephants. Sequencing of genomic DNA from EDTA blood revealed a single homozygous point mutation (c.202A>G) in the F7 gene of the FVII deficient elephant which was not present in unrelated elephants. This mutation causes an amino acid substitution (p.Arg68Gly) which is predicted to be deleterious. Two living offspring of the affected elephant were heterozygous for the mutation and had normal plasma FVII activities and coagulation profiles. Tissue from a third offspring, a deceased calf, were utilized to show that it was also a heterozygote. A DNA test has been developed to enable the screening of additional elephants for this mutation. Consistent with FVII deficiency investigations in other species, the condition did not cause a serious bleeding tendency in this individual elephant.

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Section: Introductionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY AF7MISSENSE MUTATION

Lynch

McGrath

Raj

et al. 2017

Journal of Wildlife Diseases

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“…disseminated intravascular coagulation, DIC) or due to dilution coagulopathies secondary to fluid resuscitation. One case of combined congenital and acquired FVII deficiency has been reported as a result of rodenticide poisoning in a Beagle (Daly and Giger, 2007). …”

Section: Introductionmentioning

confidence: 99%

Canine specific ELISA for coagulation factor VII

Kjelgaard‐Hansen

Tranholm

Wiinberg

et al. 2011

The Veterinary Journal

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Canine coagulation factor VII (FVII) deficiency can be hereditary or acquired and may cause life threatening bleeding episodes if untreated. FVII procoagulant activity can be measured by FVII activity (FVII:C), but assays for measurement of canine specific FVII antigen (FVII:Ag) have not been available to date. In this study, a canine specific ELISA for measurement of FVII:Ag in plasma was developed and validated. The FVII:Ag ELISA correctly diagnosed homozygous and heterozygous hereditary FVII deficiency. Together with activity based assays, such as FVII:C, the FVII:Ag ELISA should be valuable in the diagnosis of hereditary canine FVII deficiency.

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“…3 Later, the defect was identified in Beagle research colonies in the United Kingdom 4-7 and the United States, 8 as well as in the companion Beagle population. 9,10 FVII deficiency in Beagles typically is not associated with a bleeding tendency. Affected dogs usually are discovered before experimental studies, based on prolongation of the prothrombin time (PT) screening test.…”

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confidence: 99%

Hereditary Factor VII Deficiency in the Alaskan Klee Kai Dog

Kaae

Callan

Brooks

2007

Veterinary Internal Medicne

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Background: Hereditary factor VII (FVII) deficiency is characterized as a mild bleeding disorder in Beagles, caused by a missense mutation in exon 5 of the FVII gene. An Alaskan Klee Kai dog with severe bleeding after trauma was diagnosed with FVII deficiency based on coagulation testing. Molecular analyses were undertaken to identify the genetic basis of the defect in this breed. Hypothesis: FVII deficiency in Alaskan Klee Kai dogs is caused by a mutation in the FVII gene. Animals: Eighteen client‐owned Alaskan Klee Kai. Methods: Coagulation screening tests and factor assays were performed to characterize the coagulopathy. All coding regions of the propositus' FVII gene were sequenced. Amplification of exon 5, sequencing, and Mnl I restriction digest experiments were performed to screen for a point mutation in the remaining 17 dogs. Results: FVII deficiency was diagnosed in 6 dogs with a median FVII activity (FVII:C) of 5% (reference range, 50–150%). All FVII‐deficient Alaskan Klee Kai were homozygous for the same mutation as FVII‐deficient Beagles (ie, a G to A transition), resulting in substitution of glycine 96 by glutamic acid. An overlap in the FVII: C values obtained from heterozygote and wild‐type dogs precluded accurate detection of carriers without genetic screening. Conclusions and Clinical Importance: FVII deficiency may be associated with a bleeding tendency and should be considered in Alaskan Klee Kai dogs with prolonged prothrombin times. Plasma FVII:C accurately identifies affected dogs, but deoxyribonucleic acid testing is required for identification of carriers.

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A rodenticide exposed and bleeding Beagle dog with hereditary factor VII deficiency

Cited by 6 publications

References 16 publications

HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY AF7MISSENSE MUTATION

HEREDITARY FACTOR VII DEFICIENCY IN THE ASIAN ELEPHANT (ELEPHAS MAXIMUS) CAUSED BY AF7MISSENSE MUTATION

Canine specific ELISA for coagulation factor VII

Hereditary Factor VII Deficiency in the Alaskan Klee Kai Dog

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