AI Article Synopsis
- Deep venous thrombosis (DVT) is a significant health issue affecting millions, with some cases linked to genetic factors, including the HRG gene.
- Researchers documented a family with early-onset DVT and discovered a novel mutation in the HRG gene that may lead to protein deficiency.
- The study enhances understanding of the HRG gene's role in controlling blood coagulation and adds to the knowledge of genetic mutations associated with DVT.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.ejmg.2017.10.019 | DOI Listing |
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