Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families

2004 ◽  
Vol 2 (10) ◽  
pp. 1790-1797 ◽  
Author(s):  
A. Vysokovsky ◽  
R. Saxena ◽  
M. Landau ◽  
A. Zivelin ◽  
R. Eskaraev ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Subunit Gene ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Hereditary Factor ◽  
A Subunit

Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations

2018 ◽  
Vol 41 (3) ◽  
Author(s):  
Mojgan Mirakhorli ◽  
Faegheh Behboudi Farahbakhsh ◽  
Mohammad Reza Baghaipour ◽  
Touraj Mahmoudi ◽  
Mohammad Jazebi ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Mutation Spectrum ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Hereditary Factor ◽  
Iranian Patients

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

2006 ◽  
Vol 95 (01) ◽  
pp. 77-84 ◽  
Author(s):  
Verena Schroeder ◽  
Esther Meili ◽  
Trinh Cung ◽  
Peter Schmutz ◽  
Hans Kohler
Keyword(s):  
Amino Acid ◽  
Factor Xiii ◽  
Bleeding Disorder ◽  
Single Amino Acid ◽  
Factor Xiiia ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Single Amino Acid Change ◽  
A Subunit ◽  
Congenital Factor

SummaryIn 1960, the first case report on factor XIII deficiency was published describing a seven-year-old Swiss boy with a so far unknown bleeding disorder. Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. In the present study, we describe six novel mutations in the factor XIII A-subunit gene. Additionally, we present the molecular characterisation of the first described patient with congenital factor XIII deficiency. The six novel mutations include a small deletion, Glu202 del G, leading to a premature stop codon and truncation of the protein, and a splice site mutation at the exon 10/intron 10 boundary, +1G/A, giving rise to an incorrect spliced mRNA lacking exons 10 and 11. The remaining four mutations are characterised by the single amino acid changes Met159Arg, Gly215Arg, Trp375Cys, and His716Arg, and were expressed in COS-1 cells. Antigen levels and activity of the mutants were significantly reduced compared to the wild-type. The patient described in 1960 also shows a single amino acid change, Arg77Cys. Structural analysis of all mutant enzymes suggests several mechanisms leading to destabilisation of the protein.

Hereditary factor XIII deficiency: report of four families and definition of the carrier state

1984 ◽  
Vol 56 (3) ◽  
pp. 495-505 ◽  
Author(s):  
Sh. Berliner ◽  
A. Lusky ◽  
A. Zivelin ◽  
M. Modan ◽  
U. Seligsohn
Keyword(s):  
Factor Xiii ◽  
Carrier State ◽  
Factor Xiii Deficiency ◽  
Hereditary Factor ◽  
Definition Of

The G to T point mutation (Val34Leu) in the Factor XIII-A subunit gene in venous leg ulcers

2003 ◽  
Vol 1 ◽  
pp. P0296-P0296
Author(s):  
D. Gemmati ◽  
S. Tognazzo ◽  
M. L. Serino ◽  
L. Fogato ◽  
S. Carandina ◽  
...  
Keyword(s):  
Point Mutation ◽  
Factor Xiii ◽  
Leg Ulcers ◽  
Subunit Gene ◽  
Venous Leg Ulcers ◽  
A Subunit

Spontaneous regression of the inhibitor against the coagulation factor XIII A subunit in acquired factor XIII deficiency

2010 ◽  
Vol 104 (12) ◽  
pp. 1284-1285 ◽  
Author(s):  
Kentaro Okubo ◽  
Toshiro Ito ◽  
Nobuo Okumura ◽  
Masayoshi Souri ◽  
Akitada Ichinose ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Spontaneous Regression ◽  
Coagulation Factor ◽  
Factor Xiii Deficiency ◽  
Coagulation Factor Xiii ◽  
A Subunit

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene

1996 ◽  
Vol 98 (4) ◽  
pp. 393-395 ◽  
Author(s):  
K. Suzuki ◽  
Jürgen Henke ◽  
Misa Iwata ◽  
Lotte Henke ◽  
Hiroko Tsuji ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Coagulation Factor ◽  
Subunit Gene ◽  
Coagulation Factor Xiii ◽  
A Subunit ◽  
Human Coagulation Factor Xiii

Physiopathology and Regulation of Factor XIII

2001 ◽  
Vol 86 (07) ◽  
pp. 57-65 ◽  
Author(s):  
Akitada Ichinose
Keyword(s):  
Factor Xiii ◽  
Mrna Level ◽  
Factor Xiii Deficiency ◽  
Specific Expression ◽  
Nonsense Mutations ◽  
B Subunit ◽  
Cell Type Specific Expression ◽  
A Subunit ◽  
Cell Type Specific ◽  
Substrate Proteins

SummaryFactor XIII is a plasma transglutaminase. Transglutaminases are at least 8 enzymes which cross-link a number of proteins. This type of reaction not only enhances the original functions of substrate proteins, but also adds new functions to them. Factor XIII in plasma is a tetramer (A2B2), and the A subunit contains the active site. Although transglutaminases are homologous, the nucleotide sequences in their 5’-flanking region differ significantly. Accordingly, transcription factors play a major role in the cell type-specific expression of each transglutaminase. A variety of missense and nonsense mutations, and deletions/insertions with or without out-of-frame shift/premature termination and splicing abnormalities have been identified in the genes for A and B subunits in factor XIII deficiency. In some cases, the mRNA level of the A or B subunit was severely reduced. Molecular and cellular bases have also been explored by expression experiments and by molecular modeling. In most cases, impaired folding and/or conformational change of the mutant A or B subunit leads to both intra- and extra-cellular instability, which is responsible for factor XIII deficiency.

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