Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency

Haemophilia

Volumn 18, Issue 1, 2012, Pages

  Castaman, G ^a   Giacomelli, S H ^a   Schroeder, V ^b   Sanna, S ^a   Valdre L ^c   Morfini, M ^d   Banov, L ^e   Kohler, H P ^b,f   Rodeghiero, F ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f Spital Netz Bern   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13 CONCENTRATE; FIBROGAMIN; MESSENGER RNA; UNCLASSIFIED DRUG;

BLOOD CLOTTING FACTOR 13 DEFICIENCY; GENE MUTATION; GENETIC HETEROGENEITY; HEMATOTHORAX; HUMAN; ITALY; LETTER; MOLECULAR GENETICS; MUSCLE HEMATOMA; NUCLEOTIDE SEQUENCE; POSTOPERATIVE HEMORRHAGE; POSTPARTUM HEMORRHAGE; PRIORITY JOURNAL; TONSILLECTOMY;

CHROMOSOME MAPPING; EXONS; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; GENETIC HETEROGENEITY; HUMANS; ITALY; MALE; MUTATION;

EID: 84355161759     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02622.x     Document Type: Letter

References (16)

1. Lorand L, Losowsky MS, Miloszewski KJ. Human factor XIII: fibrin-stabilizing factor. Prog Hemost Thromb 1990; 5: 245-90.
2. Miloszewski KJA, Losowsky MS. Fibrin stabilisation and factor XIII deficiency. In: Francis L, ed. Fibrinogen, Fibrin Stabilisation and Fibrinolysis. Chichester: Ellis Horwood, 1988: 175-202.
3. Yee VC, Pedersen LC, Le Trong I, Bishop PD, Stenkamp RE. Teller DC.Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII. Proc Natl Acad Sci USA 1994; 91: 7296-300.
4. Bottenus RE, Ichinose A, Davie EW. Nucleotide sequence of the gene for the b subunit of human factor XIII. Biochemistry 1990; 29: 11195-209.
5. Castaman G, Giacomelli SH, Ivaskevicius V et al. Molecular characterization of five Italian families with inherited severe factor XIII deficiency. Haemophilia 2007; 14: 96-102.
6. Takahashi N, Tsukamoto H, Umeyama H, Castaman G, Rodeghiero F, Ichinose A. Molecular mechanisms of type II factor XIII deficiency: Novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency in a mammalian expression system. Blood 1998; 91: 2830-8.
7. Sing A, Rao K. A novel 3-base pair 1834-1836 AAG-deletion (Lys570Del) mutation in factor XIII A subunit associated with factor XIII deficiency. Blood 2010; 116: 1412.
8. Anwar R, Miloszewski KJA, Markhham AF. New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance. Thromb Haemost 1998; 79: 1151-6.
9. Souri M, Yee VC, Kasai K et al. Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. Br J Haematol 2001; 113: 652-4.
10. Vreken P, Niessen RW, Peters M, Schaap MC, Zuithoff-Rijntjes JG, Sturk A. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost 1995; 74: 584-9.
11. Schroeder V, Meili E, Cung T, Schmutz P, Kohler HP. Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder. Thromb Haemost 2006; 95: 77-84.
12. Ivaskevicius V, Seitz R, Kohler HP et al. The study Group International Registry on Factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost 2007; 97: 914-21.
13. Ichinose A, Tsukamoto H, Izumi T et al. Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics. Br J Haematol 1998; 101: 264-72.
14. Standen GR, Bowen DJ. Factor XIII A Bristol 1: detection of a nonsense mutation (Arg171>stop codon) in factor XIII A subunit deficiency. Br J Haematol 1993; 85: 769-72.
15. Anwar R, Valleley EMA, Trinh CH. Disease: factor XIII deficiency. Hum Genet 2010; 127: 115-6.
16. Mikkola H, Syrjala M, Rasi V et al. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcripts level. Blood 1994; 84: 517-25.