In other species: dog , sheep

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 277450 (trait)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Molecular basis: The mutation very reasonably suggested by Soute et al. (1992) to be the cause of the low procoagulant activity, leading to poor carboxylation of the various coagulation factors, has still to be discovered, mainly due to the paucity of cats with this disorder.

Clinical features: Following on from the earlier report by Maddison et al. (1990), Soute et al. (1992) reported that "plasma deficiencies of factors II, VII, IX and X" in Devon Rex cats was associated with "defective gamma-glutamyl-carboxylase, which had a decreased affinity for both vitamin K hydroquinone and propeptide" and speculated that "the low procoagulant activity is the result of a mutation in the vitamin K-dependent carboxylase, leading to poor recognition of the pro-sequence and hence to a poor carboxylation of the various coagulation factors".