title: A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency.
abstract: The feline F12 gene was examined to identify a mutation associated with coagulation factor XII (FXII) deficiency in a litter of 6 cats, including 2 cats with severely reduced FXII activity (7.1 and 9.3%, respectively) and 4 cats with moderately reduced FXII activity (range 36.0 to 46.3%). Cats with severely reduced FXII activity were homozygous for a G to C missense mutation in exon 13 of the F12 gene, resulting in an amino acid change (p.G544A). Cats with moderately reduced FXII activity were heterozygous for this mutation. Expression studies revealed reduced secretion of p.G544A mutant FXII protein from transfected HEK293 cells compared with wild type FXII. These results reveal a novel F12 mutation in FXII deficient cats and define the underlying mechanism for low FXII activity in homozygotes.
authors.affiliation: Laboratory of Veterinary Clinical Pathology, Department of Veterinary Medicine, Nihon University, 1866 Kameino, Fujisawa, Kanagawa 252-0880, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Maruyama
authors.affiliation: Laboratory of Veterinary Clinical Pathology, Department of Veterinary Medicine, Nihon University, 1866 Kameino, Fujisawa, Kanagawa 252-0880, Japan.
authors.forename: Haruki
authors.initials: H
authors.lastname: Hosoe
authors.affiliation: Nagamatsu Animal Hospital, 2-3-10 Nishiku Sakaisunayama, Niigata 950-2044, Japan.
authors.forename: Kota
authors.initials: K
authors.lastname: Nagamatsu
authors.affiliation: Laboratory of Veterinary Clinical Pathology, Department of Veterinary Medicine, Nihon University, 1866 Kameino, Fujisawa, Kanagawa 252-0880, Japan.
authors.forename: Rui
authors.initials: R
authors.lastname: Kano
authors.affiliation: Laboratory of Veterinary Clinical Pathology, Department of Veterinary Medicine, Nihon University, 1866 Kameino, Fujisawa, Kanagawa 252-0880, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kamata
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D004252:DNA Mutational Analysis / Q000662:veterinary; D005175:Factor XII Deficiency / Q000235:genetics / Q000662:veterinary*; D005260:Female; D057809:HEK293 Cells; D006801:Humans; D008297:Male; D009154:Mutation
keywords: cat; factor XII; mutation