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Genetic analysis of a pedigree with hereditary coagulation factor XI deficiency

Zhou, Xingxing; Zhang, Haiyue; Wang, Mingshan; Luo, Shasha; Liu, Siqi; Jin, Yanhui; Li, Xiaolong; Yang, Lihong

Blood Coagulation & Fibrinolysis: December 2019 - Volume 30 - Issue 8 - p 413–418
doi: 10.1097/MBC.0000000000000857
MUTATION REPORT
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To identify potential mutations of F11 gene in a family with hereditary coagulation factor XI (FXI) deficiency and explore the molecular pathogenesis. The FXI activity and FXI antigen were tested with clotting assay and ELISA, respectively. The FXI gene was amplified by PCR with direct sequencing. Three bioinformatics softwares were used to study the conservatism and harm of the mutation. The proband had a prolonged activated partial thromboplastin time (84.2 s), whose FXI activity and FXI antigen were 3.0 and 8.6%. Gene sequencing revealed that the propositus carried a heterozygous nonsense mutation c.738G>A in exon 7 resulting in a p.Trp228stop and deletions mutation c.1325delT in exon 12 resulting in a p.Leu424Cys. Two bioinformatics softwares all were indicated the mutation had affected the function of the protein. The c.738G>A heterozygous nonsense variation and the c.1325delT heterozygous deletion variation are associated with decreased FXI levels in this family, which is the first reported in the world.

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China

Correspondence to Lihong Yang, Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China. Tel: +86 57788069594; e-mail: YLH91@163.com

Received 10 April, 2019

Revised 31 July, 2019

Accepted 21 August, 2019

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