|
|
 Previous Article | Table of Contents | Next Article 
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred
with renal amyloidosis
T Uemichi, JJ Liepnieks, T Yamada, MA Gertz, N Bang and MD Benson
Department of Medicine, Indiana University School of Medicine,
Indianapolis, USA.
A new American kindred with amyloidosis was found by single-strand
conformation polymorphism analysis to have a mutation in the fibrinogen A
alpha chain gene. Affected members in this kindred have autosomal dominant
amyloid nephropathy. DNA sequencing showed a single nucleotide deletion at
the third base of codon 524 of the fibrinogen A alpha chain genes
(4904delG) that resulted in a frame shift and premature termination of the
protein at codon 548. Antiserum was produced to a portion of the abnormal
peptide predicted by the DNA sequence and amyloid deposits were
immuno-histologically proven to contain this abnormal peptide. Two of the
propositus' 4 children were positive for the mutant fibrinogen A alpha
chain gene by restriction fragment length polymorphism analysis based on
polymerase chain reaction. These two mutant gene carriers now in the second
decade of life show no clinical symptoms of amyloidosis as yet but have
lower plasma fibrinogen concentrations when compared with their normal
siblings. This the first description of a kindred with renal amyloidosis
and low plasma fibrinogen and also the first report of amyloidosis caused
by a frame shift mutation.
Volume 87,
Issue 10,
pp. 4197-4203,
05/15/1996
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. O. Brennan, R. L. Davis, R. Lowen, and A. Ruskova
Deletion of five residues from the coiled coil of fibrinogen (B{beta} Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia
Haematologica,
April 1, 2009;
94(4):
585 - 588.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. D. Gillmore, H. J. Lachmann, D. Rowczenio, J. A. Gilbertson, C.-H. Zeng, Z.-H. Liu, L.-S. Li, A. Wechalekar, and P. N. Hawkins
Diagnosis, Pathogenesis, Treatment, and Prognosis of Hereditary Fibrinogen A{alpha}-Chain Amyloidosis
J. Am. Soc. Nephrol.,
February 1, 2009;
20(2):
444 - 451.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
G. A. Tennent, S. O. Brennan, A. J. Stangou, J. O'Grady, P. N. Hawkins, and M. B. Pepys
Human plasma fibrinogen is synthesized in the liver
Blood,
March 1, 2007;
109(5):
1971 - 1974.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. O. Brennan, J. Wyatt, D. Medicina, F. Callea, and P. M. George
Fibrinogen Brescia : Hepatic Endoplasmic Reticulum Storage and Hypofibrinogenemia Because of a {gamma}284 Gly->Arg Mutation
Am. J. Pathol.,
July 1, 2000;
157(1):
189 - 196.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J.D. Gillmore, D.R. Booth, M. Rela, N.D. Heaton, V. Rahman, A.J. Stangou, M.B. Pepys, and P.N. Hawkins
Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen {alpha}-chain variant in an English family
QJM,
May 1, 2000;
93(5):
269 - 275.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. Hamidi Asl, J. J. Liepnieks, T. Uemichi, J.-M. Rebibou, E. Justrabo, D. Droz, C. Mousson, J.-M. Chalopin, M. D. Benson, M. Delpech, et al.
Renal Amyloidosis With a Frame Shift Mutation in Fibrinogen Aalpha -Chain Gene Producing a Novel Amyloid Protein
Blood,
December 15, 1997;
90(12):
4799 - 4805.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
