A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients

Blood Coagulation and Fibrinolysis

Volumn 18, Issue 2, 2007, Pages 203-204

  D'Ambrosio, Rosa ^a   Santacroce, Rosa ^a   Perna, Pasquale Di ^b   Sarno, Michela ^a   Romondia, Arturo ^c   Margaglione, Maurizio ^a,b  

^a UNIVERSITY OF FOGGIA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c Azienda Osp Univ 'Osp Riuniti'   (Italy)

Author keywords

Bleeding; Factor V and factor VIII deficiency; Gene; LMAN1; Mutation

Indexed keywords

ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD SAMPLING; CASE REPORT; ETHNICITY; EXON; GENE MUTATION; GENETIC IDENTIFICATION; HEMOPHILIA A; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN DEFICIENCY; PROTHROMBIN TIME; SEQUENCE ANALYSIS; SOUTHERN EUROPE;

CHILD, PRESCHOOL; FACTOR V DEFICIENCY; FACTOR VII DEFICIENCY; HUMANS; ITALY; MALE; MANNOSE-BINDING LECTINS; MEMBRANE PROTEINS; MUTATION;

EID: 33846900444     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e328012b615     Document Type: Article

References (10)

1. Oeri J, Matter M, Isensrhmid H. Angeborener mangel an faktor V(parahaemophilie) verbunden mit echter haemophilie A bein zwei burden. Med Probl Paediatr 1954; 1:575-588.
2. Seligsohn U. Combined factor V and factor VIII deficiency. In: Segatchian J, Savidge GT, editors. Factor VIII-von Willebrand factor. Boca Raton, FL: CRC Press; 1989.
3. Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, et al. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood 1999; 93:2261-2266.
4. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003; 34:220-225.
5. Neerman-Arbez M, Johnson KM, Morris MA, Mcvey JH, Peyvandi F, Nichols WC, et al. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood 1999; 93:2253-2260.
6. Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2005; 107:1903-1907.
7. Vogel F, Motulsky AG. Human genetics: problems and approaches. New York: Springer-Verlag; 1996.
8. Weinmann AF, Murphy ME, Thompson AR. Consequences of factor IX mutations in 26 families with haemophilia B. Br J Haematol 1998; 100:58-61.
9. Tamary H, Fromovich Y, Shalmon L, Reich Z, Dym O, Lanir N, et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb Haemost 1996; 76:282-291.
10. Lefkowitz JB, Weller A, Nuss R, Santiago-Borrero PJ, Brown DL, Ortiz IR. A common mutation, Arg457!Gln, links prothrombin deficiencies in the Puerto Rican population. J Thromb Haemost 2003; 1:2381-2388.