Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency

European Journal of Human Genetics : EJHG
M Giansily-BlaizotStudy Group of Factor Seven Deficiency

Abstract

Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum are highly variable. We have screened for mutations the FVII gene of 37 unrelated patients with a FVII coagulant activity less than 5% of normal pooled plasmas. The nine exons with boundaries and the 5' flanking region of the FVII gene were explored using a combination of denaturing gradient gel electrophoresis and direct DNA sequencing. This strategy allowed us to characterise 68 out of the 74 predicted FVII mutated alleles. They corresponded to a large panel of 40 different mutations. Among these, 18 were not already reported. Genotypes of the severely affected patients comprised, on both alleles, deleterious mutations which appeared to be related to a total absence of activated FVII. We suggest that this absence of functional FVII can explain the severe clinical expression. Whether a small release of FVII is sufficient to initiate the coagulation cascade and to prevent the expression of a severe phenotype, requires further investigations.

References

May 1, 1991·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·F GreenS Humphries
Aug 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·P J O'HaraM J Murray
Aug 1, 1988·Human Genetics·K FaganS Brownlea
Jan 19, 1996·The Journal of Biological Chemistry·E S PollakK A High
Oct 25, 1996·The Journal of Biological Chemistry·S HigashiS Iwanaga
Mar 1, 1997·Clinical and Laboratory Haematology·C BironP Aguilar-Martinez
Jun 22, 2000·Human Mutation·K Wulff, F H Herrmann
Oct 1, 1997·Haemophilia : the Official Journal of the World Federation of Hemophilia·F PeyvandiR Sharifian

❮ Previous
Next ❯

Citations

Jun 18, 2011·Journal of Thrombosis and Thrombolysis·Antonio GirolamiSilvia Vettore
Mar 29, 2002·British Journal of Haematology·Muriel Giansily-BlaizotJean-François Schved
Dec 31, 2009·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Dean KirkelFrederick R Rickles
Jan 6, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Min-Jung KwonHee-Jin Kim
Mar 5, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Minghua JiangChanggeng Ruan
May 12, 2012·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Hye In WooHee-Jin Kim
Jul 30, 2014·International Journal of Hematology·Yushi ChikasawaKatsuyuki Fukutake
Dec 27, 2011·Annales Françaises D'anesthèsie Et De Rèanimation·H HarkoukD Benhamou
Feb 20, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·S MartyM Giansily-Blaizot
Sep 12, 2006·Journal of Thrombosis and Haemostasis : JTH·M B CallanK A High
Oct 21, 2010·European Journal of Haematology·Antonio GirolamiEmanuele Allemand
Apr 14, 2011·Journal of Thrombosis and Haemostasis : JTH·F BenlakhalUNKNOWN French Study Group of Factor VII Deficiency
Aug 23, 2012·Haemophilia : the Official Journal of the World Federation of Hemophilia·Flora PeyvandiPhilippe De Moerloose
Oct 5, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·C JouannelleE Bérard
Jun 5, 2013·Haemophilia : the Official Journal of the World Federation of Hemophilia·M BorhanyM Giansily-Blaizot
Sep 3, 2014·British Journal of Haematology·Roula FarahMuriel Giansily-Blaizot
May 27, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·M Giansily-BlaizotT Shamsi
Jul 14, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·P de MoerlooseD Nugent
May 5, 2009·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·L Sfaihi Ben MansourM Hachicha
Oct 3, 2012·Thrombosis Research·Muriel Giansily-BlaizotJean-François Schved
May 24, 2005·Thrombosis Research·Keren BorensztajnJacqueline Tapon-Bretaudière
May 9, 2014·Haemophilia : the Official Journal of the World Federation of Hemophilia·G MoureyM Giansily-Blaizot
May 13, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·D LandauJ Kapelushnik
Jul 21, 2006·The Cochrane Database of Systematic Reviews·L LarunF Heian
Dec 21, 2013·Haemophilia : the Official Journal of the World Federation of Hemophilia·A NagaoH Takedani
Jul 15, 2015·European Journal of Haematology·Massimo Morfini
Aug 29, 2018·Journal of Thrombosis and Haemostasis : JTH·R A GruppoUNKNOWN Marzeptacog alfa (activated) Study Group Investigators
Jan 28, 2006·Clinical Chemistry·Parviz Ahmad-NejadMichael Neumaier
Oct 27, 2007·British Journal of Clinical Pharmacology·Thomas Klitgaard, Tina G Nielsen
Feb 26, 2016·Clinical Chemistry and Laboratory Medicine : CCLM·Peter RiefThomas Gary
Jan 15, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·M LapecorellaUNKNOWN International Registry on Congenital Factor VII Deficiency
Jun 8, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·T KnudsenM Tranholm
Aug 28, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Kanae SakakibaraAkira Shimada
Jun 18, 2015·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Xiuping HaoYanhui Jin
Nov 4, 2008·Haemophilia : the Official Journal of the World Federation of Hemophilia·F H HerrmannUNKNOWN Greifswald Factor FVII Deficiency Study Group
Mar 13, 2003·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Muriel Giansily-BlaizotJean-François Schved
May 15, 2004·British Journal of Haematology·Natascha C J MathijssenIrena R O Nováková
Mar 21, 2021·Thrombosis and Haemostasis·Elisabeth AndersenNina Iversen
Feb 16, 2021·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Kairong LiangHongying Wei

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.

Related Papers

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
Yonit Fromovich-AmitUri Seligsohn
Journal of Thrombosis and Haemostasis : JTH
Yonit Fromovich-AmitUri Seligsohn
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
Antonio GirolamiSilvia Vettore
European Journal of Haematology
Antonio GirolamiEmanuele Allemand
© 2021 Meta ULC. All rights reserved