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c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

Abstract:
Introduction Dysfibrinogenemia is a rare inherited disease that results from mutation in one of the three fibrinogen genes. Diagnosis can be misleading since it may present as a bleeding tendency or thrombosis and a specific coagulation test for diagnosis is not routinely available Aim To search for a new candidate gene of thrombophilia in a family with three generations of arterial and venous thrombosis. Methods Whole exome sequencing followed by Sanger validation and segregation analysis was carried out. In addition, structural modeling was performed. Screening for thrombophilia along with blood counts, prothrombin time, activated partial thromboplastin, thrombin, reptilase time, and fibrinogen was done in each patient. Results and discussion A missense c.259A>C, p.K87Q (g.chr4: 155510050A-C) (rs764281241) in FGA gene was found in all three siblings without any other known thrombophilia marker to explain thrombosis in all three siblings. It is expected to be damaging by six out of seven prediction programs and is very rare in the entire population with Exac=0.000008. Conclusion The occurrence of the c.259A>C mutation in FGA may well explain the thrombosis phenotype of the affected family and is suggested as a new marker for thrombophilia phenotype.
Author Listing: Ophira Salomon;Ortal Barel;Eran Eyal;Reut Shnerb Ganor;Yeroham Kleinbaum;Mordechai Shohat
Volume: 12
Pages: 27 - 33
DOI: 10.2147/TACG.S190599
Language: English
Journal: The Application of Clinical Genetics

Application of Clinical Genetics

影响因子:2.8
是否综述期刊:否
是否OA:是
是否预警:不在预警名单内
发行时间:-
ISSN:1178-704X
发刊频率:-
收录数据库:ESCI/Scopus收录/DOAJ开放期刊
出版国家/地区:United Kingdom
出版社:Dove Medical Press

期刊介绍

年发文量 22
国人发稿量 -
国人发文占比 0%
自引率 0.0%
平均录取率 -
平均审稿周期 16 Weeks
版面费 -
偏重研究方向 Biochemistry, Genetics and Molecular Biology-Genetics
期刊官网 http://www.dovepress.com/the-application-of-clinical-genetics-journal
投稿链接 -

质量指标占比

研究类文章占比 OA被引用占比 撤稿占比 出版后修正文章占比
95.45% 96.55% - -

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预警情况

时间 预警情况
2025年03月发布的2025版 不在预警名单中
2024年02月发布的2024版 不在预警名单中
2023年01月发布的2023版 不在预警名单中
2021年12月发布的2021版 不在预警名单中
2020年12月发布的2020版 不在预警名单中

JCR分区 WOS分区等级:Q2区

版本 按学科 分区
WOS期刊SCI分区
(2021-2022年最新版)
GENETICS & HEREDITY Q3

中科院分区

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