Platelets (Apr 2018)

A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome

  • Lijuan Cao,
  • Jian Su,
  • Jiaming Li,
  • Ziqiang Yu,
  • Xia Bai,
  • Zhaoyue Wang,
  • Lijun Xia,
  • Changgeng Ruan

DOI
https://doi.org/10.1080/09537104.2017.1306041
Journal volume & issue
Vol. 29, no. 3
pp. 288 – 291

Abstract

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Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnormalities of platelet functions, and absence of platelet α-granules. Genomic DNA sequencing for the patient identified a nonsense mutation (g.27713C>A) of NBEAL2 gene (g.NG__031914.1) resulting in a premature protein (p.Glu1726*). In comparison with the reported patients, we conclude that homozygotes with nonsense or deletion mutation leading to a premature stop codon exhibit more serious bleeding problem than those with missense mutations.

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