A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo).
We report a new family with hereditary factor X deficiency. The propositus had a markedly prolonged prothrombin time, a mild prolongation of activated partial thromboplastin time and a clotting time activated by Russell's viper venom. Factor X activity in plasma was 3 u/dl (normal range 56-138 u/dl). Factor X antigen level was 61 u/dl. Molecular analysis revealed a homozygous mutation, Glu (GAG) to Gln (CAG) at residue 32 which normally undergoes gamma-carboxylation within the gamma-carboxyglutamic acid rich domain. The genotypes of family members completely correlated with their factor X activities. It is suggested that the Glu32 to Gln mutation is the molecular basis for the abnormal factor X in this family.
Zama
T
T
Department of Medicine, School of Medicine, Keio University, Shinjuku-ku, Tokyo.
Murata
M
M
Watanabe
R
R
Yokoyama
K
K
Moriki
T
T
Ambo
H
H
Murakami
H
H
Kikuchi
M
M
Ikeda
Y
Y
D015055:1-Carboxyglutamic Acid / Q000235:genetics; D000328:Adult; D005170:Factor X / Q000235:genetics; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
D015055:1-Carboxyglutamic Acid; D005170:Factor X