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

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

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

Pattern of symptoms in 93 Iranian patients with severe factor XIII deficiency

2003 ◽  
Vol 1 (8) ◽  
pp. 1852-1853 ◽  
Author(s):  
M. Lak ◽  
F. Peyvandi ◽  
A. Ali Sharifian ◽  
K. Karimi ◽  
P. M. Mannucci
Keyword(s):  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
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.

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