A novel mutation in a patient with congenital coagulation factor XII deficiency

Chinese Medical Journal

Volumn 121, Issue 13, 2008, Pages 1241-1244

  Feng, Ying ^a   Ye, Xu ^a   Pang, Ying ^a   Dai, Jing ^b   Wang, Xue Feng ^b   Zhou, Xu Hong ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Factor XII deficiency inherited; Mutation; Thrombosis

Indexed keywords

ALPHA GLUCOSIDASE INHIBITOR; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 7; CALCIUM CHANNEL BLOCKING AGENT; GENOMIC DNA; WARFARIN; BLOOD CLOTTING FACTOR 12;

ADULT; AGED; ANAMNESIS; ARTICLE; BLOOD ANALYSIS; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD SAMPLING; CASE REPORT; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DNA EXTRACTION; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; HEART ARRHYTHMIA; HUMAN; HUMAN CELL; HYPERTENSION; ISCHEMIC HEART DISEASE; MALE; MUTATIONAL ANALYSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PEDIGREE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; ADOLESCENT; BLOOD; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 12 DEFICIENCY; GENETICS; POINT MUTATION;

ADOLESCENT; ADULT; AGED; BLOOD COAGULATION; FACTOR XII; FACTOR XII DEFICIENCY; FEMALE; HUMANS; MALE; POINT MUTATION;

EID: 50549088344     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200807010-00018     Document Type: Article

References (15)

1. Iwaki T, Castellino FJ. Plasma levels of bradykinin are suppressed in factor XII-deficient mice. Thromb Haemost 2006; 95: 1003-1010.
2. Schloesser M, Zeerleder S, Lutze G, Halbmayer WM, Hofferbert S, Hinney B, et al. Mutations in the human factor XII gene. Blood 1997; 90: 3967-3977.
3. Endler G, Exner M, Mannhalter C, Meier S, Ruzicka K, Handler S, et al. A common C>T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity. Thromb Res 2001; 101: 255-260.
4. Wada H, Nishioka J, Kasai Y, Kato-Nakazawa K, Abe Y, Morishita Y, et al. Molecular characterization of coagulation factor XII deficiency in a Japanese family. Thromb Haemost 2003; 90: 59-63.
5. Oguchi S, Ishii K, Moriki T, Takeshita E, Murata M, Ikeda Y, et al. Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. Thromb Res 2005; 115: 191-197.
6. Girolami A, Gavasso S, Pacquola E, Cabrio L, Lombardi AM, Girolami B. Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. Clin Appl Thromb Hemost 2005; 11: 335-338.
7. Ishii K, Oguchi S, Moriki T, Yatabe Y, Takeshita E, Murata M, et al. Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. Blood Coagul Fibrinolysis 2004; 15: 367-373.
8. Kanaji T, Kanaji S, Osaki K, Kuroiwa M, Sakaguchi M, Mihara K, et al. Identification and characterization of two novel mutations (Q421 K and R123P) in congenital factor XII deficiency. Thromb Haemost 2001; 86: 1409-1415.
9. Kuhli C, Scharrer I, Koch F, Ohrloff C, Hattenbach LO. Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. Am J Ophthalmol 2004; 137: 459-464.
10. Kanaji T, Okamura T, Osaki K, Kuroiwa M, Shimoda K, Hamasaki N, et al. A common genetic polymorphism (46 C to T substitution) in the 5′'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood 1998; 91: 2010-2014
11. Zito F, Lowe GD, Rumley A, McMahon AD, Humphries SE. WOSCOPS Study Group West of Scotland Coronary Prevention Study. Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study. Therosclerosis 2002; 165: 153-158.
12. Souto JC, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria JM, et al. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Am J Hum Genet 2000; 67: 1452-1459.
13. Renne T, Pozgajova M, Gruner S, Schuh K, Pauer HU, Burfeind P, et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med 2005; 202: 271-281.
14. Oguchi S, Ito D, Murata M, Yoshida T, Tanahashi N, Fukuuchi Y, et al. Genotype distribution of the 46 C/T polymorphism of coagulation factor XII in the Japanese population: absence of its association with ischemic cerebrovascular disease. Thromb Haemost 2000; 83: 178-179.
15. Kleinschnitz C, Stoll G, Bendszus M, Schuh K, Pauer HU, Burfeind P, et al. Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis. J Exp Med 2006; 203: 513-518.