title: A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo).
abstract: 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.
authors.affiliation: Department of Medicine, School of Medicine, Keio University, Shinjuku-ku, Tokyo.
authors.forename: T
authors.initials: T
authors.lastname: Zama
authors.forename: M
authors.initials: M
authors.lastname: Murata
authors.forename: R
authors.initials: R
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Yokoyama
authors.forename: T
authors.initials: T
authors.lastname: Moriki
authors.forename: H
authors.initials: H
authors.lastname: Ambo
authors.forename: H
authors.initials: H
authors.lastname: Murakami
authors.forename: M
authors.initials: M
authors.lastname: Kikuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
mesh_terms: 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*
chemical_list: D015055:1-Carboxyglutamic Acid; D005170:Factor X