A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo)

Takeru Zama; Mitsuru Murata; Reiko Watanabe; Kenji Yokoyama; Takanori Moriki; Hironobu Ambo; Hiroshi Murakami; Masao Kikuchi; Yasuo Ikeda

doi:10.1046/j.1365-2141.1999.01614.x

A family with hereditary factor X deficiency with a point mutation Gla³² to Gln in the Gla domain (factor X Tokyo)

Takeru Zama, Mitsuru Murata, Reiko Watanabe, Kenji Yokoyama, Takanori Moriki, Hironobu Ambo, Hiroshi Murakami, Masao Kikuchi, Yasuo Ikeda

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

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	https://doi.org/10.1046/j.1365-2141.1999.01614.x
Publication status	Published - 1999 Sep 24

Keywords

Bleeding diathesis
Coagulation factor X
Genetics
Gla domain
Mutation

ASJC Scopus subject areas

Hematology

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10.1046/j.1365-2141.1999.01614.x

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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, 24.09.1999, p. 809-811.

Research output: Contribution to journal › Article › peer-review

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keywords = "Bleeding diathesis, Coagulation factor X, Genetics, Gla domain, Mutation",

author = "Takeru Zama and Mitsuru Murata and Reiko Watanabe and Kenji Yokoyama and Takanori Moriki and Hironobu Ambo and Hiroshi Murakami and Masao Kikuchi and Yasuo Ikeda",

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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

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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.

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KW - Coagulation factor X

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KW - Gla domain

KW - Mutation

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