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Hamostaseologie 2020; 40(05): 650-654
DOI: 10.1055/a-1181-0390
Original Article

Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family

Yu Wang
1   Department of Clinical Laboratory. Wenzhou Medical University, Wenzhou, China
,
Haiyue Zhang
1   Department of Clinical Laboratory. Wenzhou Medical University, Wenzhou, China
,
Siqi Liu
1   Department of Clinical Laboratory. Wenzhou Medical University, Wenzhou, China
,
Jiajia Ye
2   Department of Clinical Laboratory. HwaMei Hospital, University of Chinese Academy of Sciences, Ningbo, China
3   Department of Clinical Laboratory. Ningbo Institute of Life and Health Industry, University of Chinese, Academy of Sciences, Ningbo, China
› Author Affiliations Funding This work was supported by the HwaMei Research Fund of Ningbo HwaMei Hospital, Zhejiang Province, China, under Grant 2020HMKY20.
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Abstract

Objective To study the molecular basis of human coagulation factor XII (FXII) deficiency in a Chinese family.

Methods Routine blood coagulation indexes were detected by a one-stage clotting method, whereas FXII antigen was detected by enzyme linked immunosorbent assay. DNA sequencing was applied to find mutations in the F12 gene. Bioinformatics and conservative analyses were performed to analyze possible effects of the mutation.

Results The proband had significantly prolonged activated partial thromboplastin time (141.9 seconds), and her FXII clotting activity was decreased to 5%. Genetic analysis revealed that the propositus carried a heterozygous missense mutation c.797G > A in exon 8 resulting in Cys247Tyr and deletion mutation c.809_811delACA in exon 9 resulting in 252delAsn. Bioinformatics results indicated that the mutation had affected the function of the protein.

Conclusion The c.797G > A heterozygous missense variation and the c.809_811delACA heterozygous deletion variation are associated with decreased FXII levels in this family, of which c.797G > A is first reported in the world.

Keywords

coagulation FXII deficiency - genetic analysis - F12 gene - gene mutation


Publication History

Received: 23 March 2020

Accepted: 18 May 2020

Article published online:
11 September 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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