A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu

被引：3

作者：

Shinohara, Kenji ^{[1
]}

Adachi, Mayumi ^{[1
]}

Matsui, Kumiko ^{[1
]}

Matsuda, Kazuhiro ^{[1
]}

Nagaya, Satomi ^{[2
]}

Morishita, Eriko ^{[2
]}

机构：

[1] Yamaguchi Prefectural Med Ctr, Dept Med, Div Hematol, Hofu, Japan

[2] Kanazawa Univ, Grad Sch Med Sci, Sch Hlth Sci, Dept Lab Sci, Kanazawa, Ishikawa 920, Japan

来源：

INTERNATIONAL JOURNAL OF HEMATOLOGY | 2008年 / 87卷 / 03期

关键词：

factor X deficiency; missense mutation; gene analysis;

D O I：

10.1007/s12185-008-0035-1

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The patient, a 20-year-old male, was found to have a slightly prolonged prothrombin time (PT). No episodes of bleeding were noted. The measurement of coagulation factors revealed that the level of factor X (FX) activity was solely deficient, 51% (normal range: 70-130% ), and that of FX antigen was 100%. Analysis of the entire FX gene revealed the novel missense mutation of (G) under bar TG to (A) under bar TG, resulting in the substitution of the 196th amino acid valine --> methionine. The mother and younger brother had a normal PT time and expressed no episode of bleeding. The mother exhibited a normal level of FX activity and antigen; however the younger brother showed a slight decrease in both the parameters. This mutation was not observed in the mother and younger brother. Polymorphism is not observed at this point in healthy persons. The present novel FX mutation was named FX Hofu.

引用

页码：256 / 259

页数：4

共 50 条

[21] A case of Aromatase deficiency due to a novel CYP19A1 mutation
Gagliardi, Lucia
Scott, Hamish S.
Feng, Jinghua
Torpy, David J.
BMC ENDOCRINE DISORDERS, 2014, 14
[22] Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation
Schejbel, L.
Schmidt, I. M.
Kirchhoff, M.
Andersen, C. B.
Marquart, H. V.
Zipfel, P.
Garred, P.
GENES AND IMMUNITY, 2011, 12 (02) : 90 - 99
[23] Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation
L Schejbel
I M Schmidt
M Kirchhoff
C B Andersen
H V Marquart
P Zipfel
P Garred
Genes & Immunity, 2011, 12 : 90 - 99
[24] A Case Report: Portal Venous Trombosis due Factor V Leiden Mutation
Yeniaras, Erhan
Toprak, Naile
Koseoglu, Gokcen
Teomete, Gulsen
Uslu, Nedret
Ozyuvaci, Emine
ISTANBUL MEDICAL JOURNAL, 2007, 8 (02): : 35 - 38
[25] AspirinGingival bleeding and epistaxis due to worsening of Factor V deficiency: case report
Reactions Weekly, 2023, 1944 (1) : 120 - 120
[26] Identification of a novel factor V A2 domain tyrosine deletion mutation in a patient with Factor V deficiency and bleeding.
Jones, CD
Negro, F
Darnell, K
Zehnder, JL
BLOOD, 2004, 104 (11) : 94B - 94B
[27] The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene
Ivaskevicius, Vytautas
Windyga, Jerzy
Baran, Beata
Bykowska, Ksenia
Daugela, Laurynas
Watzka, Matthias
Seifried, Erhard
Olenburg, Johannes
BLOOD COAGULATION & FIBRINOLYSIS, 2008, 19 (06) : 531 - 534
[28] Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Heo, Seung
Jang, Ja-Hyun
Yu, Jeesuk
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2019, 24 (03) : 199 - 202
[29] Factor V deficiency due to a FV P190S homozygous mutation, but no bleeding tendency
Shinozawa, K.
Maeda, K.
Amano, K.
Abe, M.
Inaba, H.
Fukutake, K.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2011, 9 : 689 - 689
[30] High frequency of premature termination mutations in the factor V gene: Three factor V deficiency case reports and a mutation review
Schrijver, I
Hong, DW
Mandle, L
Jones, CD
DiMichele, D
Monahan, PE
Zehnder, JL
THROMBOSIS AND HAEMOSTASIS, 2005, 93 (03) : 610 - 611

← 1 2 3 4 5 →