Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing

  • Authors:
    • Wei‑An Chang
    • Chau‑Chyun Sheu
    • Kuan‑Ting Liu
    • Jheng‑Heng Shen
    • Meng‑Chi Yen
    • Po‑Lin Kuo
  • View Affiliations

  • Published online on: September 4, 2018     https://doi.org/10.3892/etm.2018.6693
  • Pages: 4172-4180
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Abstract

Various risk factors, including high age, female gender, obesity and certain genetic defects have been linked to venous thrombosis. A Taiwanese family with venous thrombosis of unknown cause were enrolled in the present study. In this pedigree, two women without any specific underlying diseases suffered from venous thrombotic events at the same age. No specific risk factors or coagulation abnormalities were identified. The main proband's younger brother also had intestinal arterial thrombosis at 54 years of age. Therefore, it was hypothesized that familial genetic defects may be the cause of venous thrombosis within this family. Blood samples collected from certain members of this pedigree were subjected to whole‑exome sequencing, and three genetic variants were identified, including a missense variant of solute carrier family 4 member 1 (SLC4A1) (c.388G>A), a deletion on glycoprotein Ib platelet α subunit (GP1BA) (c.1322_1344del23) and an insertion in the splice site of homeostatic iron regulator (HFE). To date, none of these three genetic variants have been reported to be associated with venous thrombosis, to the best of our knowledge. The present study suggests that these genetic variants of SLC4A1, GP1BA and HFE may be associated with venous thrombosis in an Asian pedigree.
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November-2018
Volume 16 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Chang WA, Sheu CC, Liu KT, Shen JH, Yen MC and Kuo PL: Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing. Exp Ther Med 16: 4172-4180, 2018
APA
Chang, W., Sheu, C., Liu, K., Shen, J., Yen, M., & Kuo, P. (2018). Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing. Experimental and Therapeutic Medicine, 16, 4172-4180. https://doi.org/10.3892/etm.2018.6693
MLA
Chang, W., Sheu, C., Liu, K., Shen, J., Yen, M., Kuo, P."Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing". Experimental and Therapeutic Medicine 16.5 (2018): 4172-4180.
Chicago
Chang, W., Sheu, C., Liu, K., Shen, J., Yen, M., Kuo, P."Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next‑generation sequencing". Experimental and Therapeutic Medicine 16, no. 5 (2018): 4172-4180. https://doi.org/10.3892/etm.2018.6693