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Xiao B, Liu F, Jin YH, et al. Two Novel Mutations (. Ann Clin Lab Sci. 2021;51(3):426-429
Xiao, B., Liu, F., Jin, Y. H., Wang, M. X., Zhang, J., Lu, J. C., & Yang, X. C. (2021). Two Novel Mutations (. Annals of clinical and laboratory science, 51(3), 426-429.
Xiao, Bing, et al. "Two Novel Mutations (." Annals of clinical and laboratory science vol. 51,3 (2021): 426-429.
Xiao B, Liu F, Jin YH, Wang MX, Zhang J, Lu JC, Yang XC. Two Novel Mutations (. Ann Clin Lab Sci. 2021 May;51(3):426-429. PMID: 34162575.
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Ann Clin Lab Sci. 2021 May;51(3):426-429.

Two Novel Mutations (.

Annals of clinical and laboratory science

Bing Xiao, Fan Liu, Ye-Hui Jin, Meng-Xiao Wang, Jie Zhang, Jing-Chao Lu, Xiu-Chun Yang

Affiliations

  1. Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
  2. Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China [email protected] [email protected].

PMID: 34162575

Abstract

OBJECTIVE: To identify the gene mutation of the coagulation factor XII (FXII) in a patient with FXII deficiency and acute inferior myocardial infarction.

METHODS: The proband was a 51-year-old Chinese man who was diagnosed with acute inferior myocardial infarction and had a history of FXII deficiency. The patient presented with a prolonged activated partial thromboplastin time (160 s) and decreased FXII activity (2.3%) and FXII antigen (1%). DNA sequence analysis of the FXII gene was performed by next generation sequencing. The mutant FXII cDNAs were constructed in an expression plasmid vector and transfected into 293T cells. The expression of FXII antigen was detected by western blot.

RESULTS: Sequencing of the FXII gene revealed two novel heterozygous mutations, one at exon 8 (G774A; p: W258X) and the other at exon 14 (A1685G; p: D562G). Western blot showed that the FXII antigens were detected only in the supernatant and whole cell lysate of the wild-type and A1685G mutant type, but not in G774A or G774A plus the A1685G mutant type. In addition, the results showed that secretion but not synthesis of A1685G mutant protein was markedly reduced compared to the wild type.

CONCLUSION: The present study indicated that the

© 2021 by the Association of Clinical Scientists, Inc.

Keywords: A1685G; G774A; coagulation factor XII; deficiency; mutation

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