|
|
 Previous Article | Table of Contents | Next Article 
Type I factor XIII deficiency is caused by a genetic defect of its b
subunit: insertion of triplet AAC in exon III leads to premature
termination in the second Sushi domain
T Izumi, T Hashiguchi, G Castaman, A Tosetto, F Rodeghiero, A Girolami and A Ichinose
Department of Molecular Patho-Biochemistry, Yamagata University School of
Medicine, Japan.
Factor XIII deficiency has been classified into two categories: type I
deficiency, characterized by the lack of both the a and b subunits; and
type II deficiency, characterized by the lack of the a subunit alone. To
clarify the genetic bases of these diseases, previously reported cases of
the type I deficiency were examined at the DNA level. DNA sequence analysis
showed that a nucleotide triplet (AAC) was inserted within the codon for
Tyr-80 in exon III of the gene for a female proband's b subunit, resulting
in the creation of a stop codon. Restriction digestion of amplified DNAs
confirmed that the proband and her sister were homozygotes, and their
family members were heterozygotes of this mutant allele. A truncated
protein composed of 79 amino acids could be synthesized by these
homozygotes; however, such a protein would not be secreted or it would
degrade quickly, because there were normal amounts of the mutant mRNA, but
no b subunit was detected in these patients. The a subunit deficiency of
these patients must be a secondary to the b subunit deficiency, as their
gene for the a subunit was intact, and the a subunit in their platelets was
present within normal levels.
Volume 87,
Issue 7,
pp. 2769-2774,
04/01/1996
Copyright © 1996 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
S. E. Iismaa, B. M. Mearns, L. Lorand, and R. M. Graham
Transglutaminases and Disease: Lessons From Genetically Engineered Mouse Models and Inherited Disorders
Physiol Rev,
July 1, 2009;
89(3):
991 - 1023.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
E. Ajzner, A. Schlammadinger, A. Kerenyi, Z. Bereczky, E. Katona, G. Haramura, Z. Boda, and L. Muszbek
Severe bleeding complications caused by an autoantibody against the B subunit of plasma factor XIII: a novel form of acquired factor XIII deficiency
Blood,
January 15, 2009;
113(3):
723 - 725.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. E. Lovejoy, T. C. Reynolds, J. E. Visich, M. D. Butine, G. Young, M. A. Belvedere, R. C. Blain, S. M. Pederson, L. M. Ishak, and D. J. Nugent
Safety and pharmacokinetics of recombinant factor XIII-A2 administration in patients with congenital factor XIII deficiency
Blood,
July 1, 2006;
108(1):
57 - 62.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Koseki-Kuno, M. Yamakawa, G. Dickneite, and A. Ichinose
Factor XIII A subunit-deficient mice developed severe uterine bleeding events and subsequent spontaneous miscarriages
Blood,
December 15, 2003;
102(13):
4410 - 4412.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. A. S. Ariens, T.-S. Lai, J. W. Weisel, C. S. Greenberg, and P. J. Grant
Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms
Blood,
July 18, 2002;
100(3):
743 - 754.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Koseki, M. Souri, S. Koga, M. Yamakawa, T. Shichishima, Y. Maruyama, F. Yanai, and A. Ichinose
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation
Blood,
May 1, 2001;
97(9):
2667 - 2672.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. Lorand
Sol Sherry Lecture in Thrombosis : Research on Clot Stabilization Provides Clues for Improving Thrombolytic Therapies
Arterioscler Thromb Vasc Biol,
January 1, 2000;
20(1):
2 - 9.
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. Lorand, P. T. Velasco, S.N. P. Murthy, P. Lefebvre, and D. Green
Autoimmune Antibody in a Hemorrhagic Patient Interacts With Thrombin-Activated Factor XIII in a Unique Manner
Blood,
February 1, 1999;
93(3):
909 - 917.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Kangsadalampai, G. Chelvanayagam, R. T. Baker, P.-t. Yenchitsomanus, P. Pung-amritt, C. Mahasandana, and P. G. Board
A Novel Asn344 Deletion in the Core Domain of Coagulation Factor XIII A Subunit: Its Effects on Protein Structure and Function
Blood,
July 15, 1998;
92(2):
481 - 487.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. Takahashi, H. Tsukamoto, H. Umeyama, G. Castaman, F. Rodeghiero, and A. Ichinose
Molecular Mechanisms of Type II Factor XIII Deficiency: Novel Gly562-Arg Mutation and C-Terminal Truncation of the A Subunit Cause Factor XIII Deficiency as Characterized in a Mammalian Expression System
Blood,
April 15, 1998;
91(8):
2830 - 2838.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Mikkola, L. Muszbek, E. Laiho, M. Syrjala, E. Hamalainen, G. Haramura, T. Salmi, L. Peltonen, and A. Palotie
Molecular Mechanism of a Mild Phenotype in Coagulation Factor XIII (FXIII) Deficiency: A Splicing Mutation Permitting Partial Correct Splicing of FXIII A-Subunit mRNA
Blood,
February 15, 1997;
89(4):
1279 - 1287.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
