Abstract Number: PB0191
Meeting: ISTH 2020 Congress
Background: Coagulation factor XI (FXI) deficiency is an autosomal bleeding disorder characterized by variable bleeding tendency. To date, many allele variants have been shown to cause this rare bleeding disorder.
Aims: The aim of this study is to characterizing the clinical manifestations and mutation spectrum of 12 unrelated patients with FXI deficiency in China.
Methods: Clinical data were collected and mutations were identified by next generation sequencing (NGS) and verified using Sanger sequencing. The potential interference of exon-intron boundary mutations with normal splicing efficiency was predicted by using the NetGene2 program and the BDGP splicing predictor program.
Results: Bleeding histories were mentioned in 7 patients (7/12, 58.3%) with easy bruising 3/12 (25%), post-traumatic hemorrhage 1/12 (8%), intra-articular bleeding 1/12 (8%), epistaxis 1/12 (8%), and menorrhagia 1/7 (14% of female subjects). Other bleeding phenotypes were not found in these patients. A total number of 11 mutations were identified including 3 novel splicing mutations (c.55G>A, c.1717-1G>A and c.1575_1576delAG), and in silico analysis revealed that these mutations might abolish the native splice sites.
Conclusions: NGS is an effective technique to detect the F11 gene mutations, and our results further enrich the variation spectrum of the F11 gene in Chinese population.
To cite this abstract in AMA style:Zhang D, Lin Y, Qin L, Chen L, Ru K, Yang R. Molecular Analysis in 12 factor XI Deficiency Patients from China: Identification of Three Novel Splicing Mutations [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/molecular-analysis-in-12-factor-xi-deficiency-patients-from-china-identification-of-three-novel-splicing-mutations/. Accessed December 11, 2023.
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