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.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/molecular-analysis-in-12-factor-xi-deficiency-patients-from-china-identification-of-three-novel-splicing-mutations/