Mutations Causing Feline Factor XII Deficiency in the United States

摘要

Coagulation Factor XII (FXII) biologic activities include initiation of the intrinsic pathway of blood coagulation, activation of the kallikrein-kinin system and regulation of vascular permeability. FXII deficiency is hypothesized to prevent pathologic thrombosis. Unlike other species, FXII deficiency is a common hereditary factor deficiency in cats. To date, two causative feline F12 mutations have been described: p.L441CfsX119, found in a feline research colony in the United States and p.G544A, identified in 2 Japanese DSH siblings. The aim of this study was to identify F12 mutations responsible for the high prevalence of feline FXII deficiency in the United States.