|
|
 Previous Article | Table of Contents | Next Article 
Blood, 15 November 2000, Vol. 96, No. 10, pp. 3650-3652
BRIEF REPORT
Novel mutation in the  -glutamyl carboxylase gene resulting in
congenital combined deficiency of all vitamin
K-dependent blood coagulation factors
Henri M. H. Spronk,
Roula
A. Farah,
George R. Buchanan,
Cees Vermeer, and
Berry A. M. Soute
From the Department of Pediatrics, Sainte-Therese
Hospital, Beirut, Lebanon; the Department of Pediatrics,
University of Texas Southwestern Medical Center, Dallas, TX; and the
Department of Biochemistry, Maastricht University, The
Netherlands.
A mutation in the  -glutamyl carboxylase gene leading to a
combined congenital deficiency of all vitamin K-dependent coagulation factors was identified in a Lebanese boy. He is the first offspring of
consanguineous parents and was homozygous for a unique point mutation
in exon 11, resulting in the conversion of a tryptophan codon (TGG) to
a serine codon (TCG) at amino acid residue 501. Oral vitamin
K1 administration resulted in resolution of the clinical symptoms. Screening of several family members on this mutation with an
RFLP technique revealed 10 asymptomatic members who were heterozygous
for the mutation, confirming the autosomal recessive pattern of
inheritance of this disease. In 50 nonrelated normal subjects, the mutation was not found. This is the second time a
missense mutation in the -glutamyl carboxylase gene is described that has serious impact on normal hemostasis.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
D. Darghouth, K. W. Hallgren, R. L. Shtofman, A. Mrad, Y. Gharbi, A. Maherzi, R. Kastally, S. LeRicousse, K. L. Berkner, and J.-P. Rosa
Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency
Blood,
September 15, 2006;
108(6):
1925 - 1931.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. S. Johnson, B. A. Soute, C. S. Olver, and D. C. Baker
Defective {gamma}-Glutamyl Carboxylase Activity and Bleeding in Rambouillet Sheep.
Vet. Pathol.,
September 1, 2006;
43(5):
726 - 732.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
Y. Wang, W. Zhang, Y. Zhang, Y. Yang, L. Sun, S. Hu, J. Chen, C. Zhang, Y. Zheng, Y. Zhen, et al.
VKORC1 Haplotypes Are Associated With Arterial Vascular Diseases (Stroke, Coronary Heart Disease, and Aortic Dissection)
Circulation,
March 28, 2006;
113(12):
1615 - 1621.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
E. Shikata, I. Ieiri, S. Ishiguro, H. Aono, K. Inoue, T. Koide, S. Ohgi, and K. Otsubo
Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and {gamma}-glutamyl carboxylase) gene variants with warfarin sensitivity
Blood,
April 1, 2004;
103(7):
2630 - 2635.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
V. P. Mutucumarana, F. Acher, D. L. Straight, D.-Y. Jin, and D. W. Stafford
A Conserved Region of Human Vitamin K-dependent Carboxylase between Residues 393 and 404 Is Important for Its Interaction with the Glutamate Substrate
J. Biol. Chem.,
November 21, 2003;
278(47):
46488 - 46493.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Fregin, S. Rost, W. Wolz, A. Krebsova, C. R. Muller, and J. Oldenburg
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16
Blood,
October 16, 2002;
100(9):
3229 - 3232.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
B. N Ames, I. Elson-Schwab, and E. A Silver
High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms
Am. J. Clinical Nutrition,
April 1, 2002;
75(4):
616 - 658.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
B. N. Pudota, E. L. Hommema, K. W. Hallgren, B. A. McNally, S. Lee, and K. L. Berkner
Identification of Sequences within the gamma -Carboxylase That Represent a Novel Contact Site with Vitamin K-dependent Proteins and That Are Required for Activity
J. Biol. Chem.,
December 7, 2001;
276(50):
46878 - 46886.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
