Type II antithrombin deficiency caused by a novel missense mutation (p.Leu417Gln) in a Chinese family

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
Siqi LiuMingshan Wang

Abstract

o explore the phenotype and genotype of a hereditary antithrombin deficient Chinese family. Functional and molecular analysis of the proband and his family members was performed. Online bioinformatics software was used to predict the pathogenicity of the novel mutation. ClustalX-2.1-win and PyMol software were applied to conservative analysis and generate molecular graphic images, respectively. Functional analysis had shown that the antithrombin (AT):A of the proband was reduced to 32% whereas AT:Ag was normal. Molecular analysis revealed a heterozygous missense mutation p. Leu417Gln in exon 7 of SERPINC1 gene. Bioinformatics and model analysis indicated that this mutation could affect the integrity of local intermolecular structures, resulting in a mild type of antithrombin deficiency but when combined with other genetic or acquired thrombophilic factors, patients may develop venous thrombosis. The p.Leu417Gln mutation was responsible for the decrease of AT:A in this family and caused type II antithrombin deficiency.

References

Aug 5, 2003·International Journal of Hematology·Keiko NagaizumiKatsuyuki Fukutake
Jan 1, 1965·Scandinavian Journal of Clinical and Laboratory Investigation·O EGEBERG
Jan 15, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·M M Patnaik, S Moll
Jan 26, 2011·Thrombosis and Haemostasis·Beate LuxembourgAnna Pavlova
Sep 3, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Moon Ju JangDoyeun Oh
Feb 5, 2013·The Journal of the American Academy of Orthopaedic Surgeons·Gregory GrabowskiMichael Kanwisher
Jul 14, 2018·Thrombosis Research·Javier CorralVicente Vicente
Apr 29, 2019·Thrombosis Research·Shogo TamuraTetsuhito Kojima
Sep 4, 2019·Acta Haematologica·Haiyue ZhangMingshan Wang
Mar 11, 2020·Thrombosis Research·Dana ProvazníkováIngrid Hrachovinová

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