Familial early-onset deep venous thrombosis associated with a novel HRG mutation
| Autor: | Qing Cao, Wei Zhou, Weimin Zhou, Qingfu Zeng, Wenwen Zhang, Junfu Luo |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Heterozygote 030204 cardiovascular system & hematology Biology Bioinformatics 03 medical and health sciences symbols.namesake Exon 0302 clinical medicine Genetics medicine Humans Gene Genetics (clinical) Exome sequencing Venous Thrombosis Sanger sequencing Point mutation Proteins General Medicine Middle Aged medicine.disease Pedigree Venous thrombosis 030104 developmental biology Coagulation Mutation Mutation (genetic algorithm) symbols Female |
| Zdroj: | European Journal of Medical Genetics. 61:68-71 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2017.10.019 |
| Popis: | Deep venous thrombosis (DVT) remains a serious clinical problem that affects millions of people worldwide. Some DVT cases are caused by inherited thrombophilia derived from genetic aberrations and several disease-causing genes have been identified so far. Among them, HRG is an uncommon one with limited related reports. Here, we reported on a family with early-onset DVT where acquired risky conditions were excluded. Whole exome sequencing revealed a novel heterozygous single base pair substitution in exon 2 of HRG gene resulting in a conserved residue replacement of the protein (c. C271T, p. P73S). Sanger sequencing confirmed the co-segregation of the mutation and plasma quantification determined circulating protein deficiency. The mutation might therefore impair hemostatic balance by causing reduced circulating HRG level. Our study broadens the mutation spectrum of the HRG gene and underscores the importance of its function in regulating coagulation pathway. |
| Databáze: | OpenAIRE |
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