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Detection and Analysis of Gene Mutations in Patients with Fibrinogen Deficiency by Next Generation Sequencing
ISTH Academy. Sun B. Jul 10, 2019; 274085; OC 74.5
Boyang Sun
Boyang Sun
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OC 74.5

Detection and Analysis of Gene Mutations in Patients with Fibrinogen Deficiency by Next Generation Sequencing

X. Zhang1, D. Zhang2, B. Sun2, F. Zhou1
1Zhongnan Hospital of Wuhan University, Wuhan, China, 2Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences, Tianjin, China

Main Topic: Fibrinolysis and Proteolysis
Category: Fibrinogen & Factor XIII

Background: Fibrinogen deficiency can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). Congenital fibrinogen disorders can lead to the development of bleeding or thromboembolic events. When striving for applicability in routine clinical practice, it soon becomes clear that population Sanger sequencing is too labor-intensive and time-consuming.
Aims: In this study, we aimed to assess FGA, FGB, FGG gene mutations through next generation sequencing (NGS) in diagnosed patients of Fibrinogen deficiency.
Methods: A cohort of 19 patients with clinical symptoms who underwent laboratory were enrolled for molecular genetic analysis by NGS. Sample DNA was amplified using Ampliseq primer panel, and libraries were prepared following the manufacturer´s Ion Ampliseq Library Preparation protocol. Individual samples were barcoded, pooled, templated, and sequenced on the Ion Torrent Proton Sequencer. Raw sequencing reads generated by the Ion Torrent sequencer were quality and adaptor trimmed by Ion Torrent Suite and then aligned to the hg19 reference sequence.
Results: We identified 16 pathogenic mutations, including 9 novel mutations, from all the 19 patients. Amon those mutations, mutations in FGA genes were p.L506fs, p.G36S, p.R743Q, p.M11T, p.R38G, p.L28P, p.R35C and p.R35H; mutations in FGB gene were p.N190fs and p.R285C; mutations in FGG gene were p.D167G, p.R301H, p.N351D, p.C365G, p.S404F, p.R301C. Compound heterozygous mutations were identified in 2 patients, 1 patients with FGA: p.R743Q and p.M11T, and 1 patient with FGB: p.N190fs and p.R285C.
Conclusions: NGS technology is systematic and efficient, and may be a useful method to detect the mutations in Fibrinogen deficiency patients.

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