Factor V C1149G and 5609-101NSCGTGGTT causing factor V deficiency: Molecular characterization by in-vitro expression [1]

Thrombosis and Haemostasis

Volumn 98, Issue 3, 2007, Pages 683-685

  Cai, Xiao Hong ^a,c   Wang, Xue Feng ^a,b   Ding, Qiu Lan ^a,b   Fu, Qi Hua ^b   Wang, Hong Li ^b  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c Shanghai Blood Center   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ADULT; ANAMNESIS; BLEEDING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; CHINESE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; LETTER; MOLECULAR DYNAMICS; MYOMECTOMY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; SCREENING; WESTERN BLOTTING;

ANIMALS; BLOOD COAGULATION; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR V; FACTOR V DEFICIENCY; FEMALE; GOLGI APPARATUS; HUMANS; LYSOSOMES; MIDDLE AGED; MOLECULAR WEIGHT; PEDIGREE; PROTEIN CONFORMATION; PROTEIN SORTING SIGNALS; PROTEIN TRANSPORT; SEVERITY OF ILLNESS INDEX; TRANSFECTION;

EID: 34548663107     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-01-0041     Document Type: Letter

References (15)

1. Schrijver I, Houissa-Kastally R, Jones CD, et al. Novel Factor V C2-Domain Mutation (R2074H) in Two Families with Factor V Deficiency and Bleeding. Thromb Haemost 2002; 87: 294-299.
2. Gandrille S, Aiach M. Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM network on molecular abnormalities responsible for protein C and protein S deficiencies. Blood 1995; 86: 2598-2605
3. Schrijver I, Hong DW, Mandle L, et al. High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. Thromb Haemost 2005; 93: 610-611.
4. Cai X-H, Wang X-F, Dai J, et al. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. J Thromb Haemost 2006; 4: 1969-1974.
5. Zhou RF, Fu QH, Wang WB, et al. Molecular mechanisms of antithrombin deficiency in two Chinese families. One novel and one recurrent point mutation in the antithrombin gene causing venous thrombosis. Thromb Haemost 2005; 94: 1172-1176.
6. Chen TY, Lin TM, Chen HY, et al. Gly392Cys mis-sense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein. Thromb Haemost 2005; 93: 614-615.
7. Enjolras N, Plantier JL, Rodriguez M-H, et al. Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion. J Thromb Haemost 2004; 2: 1143-1154.
8. Duga S, Montefusco MC,Asselta R, et al. R2074C missense mutation in the C2-domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. Blood 2003; 101: 173-177.
9. Montefusco MC, Duga S, Asselta R, et al. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of die newly identified missense mutations. Blood 2003; 102: 3210-3216.
10. Yamakage N, Ikejiri M, Okumura K, et al. A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene. Haemophilia 2006; 12: 172-178.
11. Steen M, Miteva M, Villoutreix BO, et al. Factor V New Brunswick: Ala221 Val associated with FV deficiency reproduced in vitro and functionally characterized. Blood 2003; 102: 1316-1322.
12. Fitches AC, Lewandowski K, Olds RJ. Creation of an additional glycosylation, site as a mechanism for type I antithrombin deficiency. Thromb Haemost 2001; 86: 1023-1027.
13. Duga S, Asselta P, Malcovati M, et al. From Owren's first parahemophilia case to present, characterization of missense mutations in the factor V gene by in vitro expression. Blood 2003; 102: 306a, Abstract 1099.
14. Busca R, Martinez M, Wells E, et al. The mutation Gly142Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. J Biol Chem 1996; 271: 2139-2146.
15. Busca R, Pujana MA, Pognonec P, et al. Absence of N-glycosylation at asparagine 43 in human lipoprotein lipase induces its accumulation in the rough endoplasmic reticulum and alters this cellular compartment. J Lipid Res 1995; 36: 939-951.