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Double Heterozygous Mutations (Cys247Tyr and 252delAsn) Cause Factor XII Deficiency in a Chinese Family
Yu Wang1, Haiyue Zhang1, Siqi Liu1
1Department of Clinical Laboratory. Wenzhou Medical University, Wenzhou, China.
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.
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