A novel heterozygous mutation (γIIe367Thr) causes congenital dysfibrinogenemia in a Chinese family
| Autor: | Shasha Luo, Mingshan Wang, Siqi Liu, Qiyu Xu, Yaosheng Xie, Lihong Yang, Xiaolong Li, Yanhui Jin |
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| Rok vydání: | 2020 |
| Předmět: |
Proband
Adult Male China Heterozygote DNA Mutational Analysis Mutation Missense 030204 cardiovascular system & hematology Biology Fibrinogen 03 medical and health sciences Exon 0302 clinical medicine Asian People medicine Missense mutation Humans Dysfibrinogenemia Chinese family Gene Genetics Hematology General Medicine medicine.disease Afibrinogenemia Pedigree Mutation (genetic algorithm) Female 030215 immunology medicine.drug |
| Zdroj: | Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 31(8) |
| ISSN: | 1473-5733 |
| Popis: | The aim of this study was to elucidate the molecular defects in a Chinese family with dysfibrinogenemia. The fibrinogen activity was measured by the one-stage clotting method. The fibrinogen antigen was measured with immunoturbidimetry. The fibrinogen gene was amplified by PCR with direct sequencing. Suspected mutation was confirmed by reverse sequencing. Bioinformatics and model analysis were used to study the conservatism and harm of the mutation. The proband had a history of menorrhagia. Study showed fibrinogen activity at 0.35 g/l and fibrinogen antigen at 2.05 g/l. Sequencing analysis detected a heterozygous c.1178T>C missense mutation in exon 9 of FGG gene resulting in p.IIe367Thr. The bioinformatics and model analysis indicated that the IIe367Thr mutation may disrupt the activation of the fibrinogen. We detected a novel IIe367Thr missense mutation in the FGG. To our knowledge this is causative mutation has not been reported so far. |
| Databáze: | OpenAIRE |
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