Molecular characterization of five Italian families with inherited severe factor XIII deficiency

Haemophilia

Volumn 14, Issue 1, 2008, Pages 96-102

  Castaman, G ^a   Giacomelli, S H ^a   Ivaskevicius, V ^b   Schroeder, V ^c   Kohler, H P ^c   Dragani, A ^d   Biasioli, C ^e   Oldenburg, J ^b   Madeo, D ^a   Rodeghiero, F ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c UNIVERSITY OF BERN   (Switzerland)

^d UNIVERSITY OF CHIETI   (Italy)

^e BUFALINI HOSPITAL   (Italy)

Author keywords

Coagulation; Factor XIII; Gene mutation; Inherited bleeding disorders

Indexed keywords

ADENINE; ARGININE; ASPARAGINE; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 13A; CYTOSINE; FIBROGAMIN; GUANINE; HISTIDINE; HYDROGEN; LEUCINE; PROLINE; SERINE; TYROSINE; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DOG; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC CONSERVATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYDROGEN BOND; INHERITANCE; INTRON; ITALY; MALE; MISSENSE MUTATION; MOLECULAR MECHANICS; MONKEY; NONSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SPECIES DIFFERENCE; STOP CODON; STRUCTURE ANALYSIS; SWINE;

CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; FACTOR XIII; FACTOR XIII DEFICIENCY; FAMILY HEALTH; FRAMESHIFT MUTATION; GENE COMPONENTS; HOMOZYGOTE; HUMANS; ITALY; MUTATION; MUTATION, MISSENSE; PROTEIN SUBUNITS;

EID: 37749009994     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01603.x     Document Type: Article

References (18)

1. Lorand L, Losowsky MS, Miloszewski KJ. Human factor XIII: fibrin-stabilizing factor. Prog Hemost Thromb 1980; 5: 245-90.
2. Schwartz ML, Pizzo SV, Hill RL, McKee PA. Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin. J Biol Chem 1973; 248: 1395-407.
3. 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.
4. Ichinose A. Physiopathology and regulation of factor XIII. Thromb Haemost 2001; 86: 57-65.
5. Ichinose A, Davie EW. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 1988; 85: 5829-33.
6. Ichinose A, Davie EW. Primary structure of human coagulation factor XIII. Adv Exp Med Biol 1988; 231: 15-27.
7. 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.
8. Yee VC, Pedersen LC, Bishop PD, Stenkamp RE, Teller DC. Structural evidence that the activation peptide is not released upon thrombin cleavage of factor XIII. Thromb Res 1995; 78: 389-97.
9. Webb GC, Coggan M, Ichinose A, Board PG. Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus. Hum Genet 1989; 81: 157-60.
10. Bottenus RE, Ichinose A, Davie EW. Nucleotide sequence of the gene for the b subunit of human factor XIII. Biochemistry 1990; 29: 11195-209.
11. Ivaskevicius V, Seitz R, Kohler HP et al. International Registry on Factor XIII deficiency: A basis formed mostly on European data. Thromb Haemost 2007; 97: 914-21.
12. Weiss MS, Metzner HJ, Hilgenfeld R. Two non-proline cis peptide bonds may be important for factor XIII function. FEBS Lett 1998; 423: 291-6.
13. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-Pdb Viewer: An environment for comparative protein modeling. Electrophoresis 1997; 18: 2714-23.
14. 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.
15. Anwar R, Gallivan L, Richards M, Khair K, Wright M, Minford A. Factor XIII deficiency: New nonsense and deletion mutations in factor XIIIA gene. Haematologica 2005; 90: 1718-20.
16. Anwar R, Miloszewski KJ. Factor XIII deficiency. Br J Haematol 1999; 107: 468-84.
17. 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.
18. Lak M, Peyvandi F, Ali Sharifian A, Karimi K, Mannucci PM. Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency. J Thromb Haemost 2003; 1: 1852-3.