Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient.

Abstract

Congenital factor V deficiency is a rare bleeding disorder characterized by low coagulant activity, associated with variable phenotypic expression. Among rare inherited coagulopathies, the molecular basis of factor V deficiency is rarely described because of its relatively low prevalence in the general population. Recently, we detected two genetic variations in factor V of a Chinese patient with hereditary factor V deficiency. One was a heterozygous nonsense mutation, C67868T in exon 22, which resulted in Gln2031stop substitution in the C1 domain of factor V. The other was a previously described polymorphism, G1618A in exon10, leading to Arg485Lys substitution. We deduced that the nonsense mutation is responsible for the factor V deficiency, whereas the Arg485Lys polymorphism is expected to compensate for the low plasma factor V levels. Of note, the nonsense mutation has been confirmed to be a novel mutation.

• Authors: Yingyu Wang, Liqing Zhu, Lianmin Ye, Yaosheng Xie, Jingye Pan, Mingshan Wang
• Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis (Blood Coagul Fibrinolysis) Vol. 25 Issue 3 Pg. 283-5 (Apr 2014) ISSN: 1473-5733 [Electronic] England
• PMID: 24675695 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon, Nonsense

Topics

• Asian Continental Ancestry Group
• Codon, Nonsense
• DNA Mutational Analysis
• Factor V Deficiency (genetics)
• Humans
• Male
• Middle Aged
• Mutation, Missense