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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.

SUBMITTER: Maruyama H

PROVIDER: S-EPMC5447966 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency.

Maruyama Haruhiko H Hosoe Haruki H Nagamatsu Kota K Kano Rui R Kamata Hiroshi H

The Journal of veterinary medical science 20170407 5

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 h ...[more]

PMID: 28392508

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Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.

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Project description: Not available

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A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A.

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| S-EPMC3964430 | biostudies-literature

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