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 γ-carboxylation within the γ-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.
| Original language | English |
|---|---|
| Pages (from-to) | 809-811 |
| Number of pages | 3 |
| Journal | British Journal of Haematology |
| Volume | 106 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 1999 |
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Keywords
- Bleeding diathesis
- Coagulation factor X
- Genetics
- Gla domain
- Mutation
ASJC Scopus subject areas
- Hematology
Cite this
A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). / Zama, Takeru; Murata, Mitsuru; Watanabe, Reiko; Yokoyama, Kenji; Moriki, Takanori; Ambo, Hironobu; Murakami, Hiroshi; Kikuchi, Masao; Ikeda, Yasuo.
In: British Journal of Haematology, Vol. 106, No. 3, 1999, p. 809-811.Research output: Contribution to journal › Article
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TY - JOUR
T1 - A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo)
AU - Zama, Takeru
AU - Murata, Mitsuru
AU - Watanabe, Reiko
AU - Yokoyama, Kenji
AU - Moriki, Takanori
AU - Ambo, Hironobu
AU - Murakami, Hiroshi
AU - Kikuchi, Masao
AU - Ikeda, Yasuo
PY - 1999
Y1 - 1999
N2 - 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 γ-carboxylation within the γ-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.
AB - 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 γ-carboxylation within the γ-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.
KW - Bleeding diathesis
KW - Coagulation factor X
KW - Genetics
KW - Gla domain
KW - Mutation
UR - http://www.scopus.com/inward/record.url?scp=0032877038&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032877038&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2141.1999.01614.x
DO - 10.1046/j.1365-2141.1999.01614.x
M3 - Article
VL - 106
SP - 809
EP - 811
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 3
ER -