title: Hereditary factor VII deficiency in the Alaskan Klee Kai dog.
abstract: 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.
  
  
  OBJECTIVE
  FVII deficiency in Alaskan Klee Kai dogs is caused by a mutation in the FVII gene.
  
  
  METHODS
  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
  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.
authors.affiliation: Department of Medical Sciences, School of Veterinary Medicine, University of' Wisconsin, Madison, WI, USA.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Kaae
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Callan
authors.forename: Marjory B
authors.initials: MB
authors.lastname: Brooks
mesh_terms: D000818:Animals; D001483:Base Sequence; D025861:Blood Coagulation Disorders, Inherited / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004283:Dog Diseases / Q000097:blood / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D005260:Female; D005838:Genotype; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D010314:Partial Thromboplastin Time / Q000662:veterinary; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000662:veterinary; D011517:Prothrombin Time / Q000662:veterinary; D017422:Sequence Analysis, DNA
chemical_list: D005167:Factor VII; D004247:DNA