Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient
| Autor: | Lianmin Ye, Yaosheng Xie, Jingye Pan, Yingyu Wang, Mingshan Wang, Liqing Zhu |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Genetics education.field_of_study Hereditary Factor V Deficiency Factor V Deficiency biology DNA Mutational Analysis Population Nonsense mutation Mutation Missense Factor V Hematology General Medicine Middle Aged Molecular biology Exon Asian People Codon Nonsense Polymorphism (computer science) Genetic variation biology.protein Humans education |
| Zdroj: | Blood Coagulation & Fibrinolysis. 25:283-285 |
| ISSN: | 0957-5235 |
| DOI: | 10.1097/mbc.0000000000000048 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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