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

Abstract

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.

Keywords:

• Corpus luteum rupture
• gene mutation
• gray platelet syndrome
• NBEAL2
• menorrhagia

Declaration of interest

The authors stated that they had no interests which might be perceived as posing a conflict or bias.

Funding

This work was supported by the Suzhou Science and Technology Project (SY201217), University Science Research Project of Jiangsu Province (12KJB320011), Jiangsu Provincial Special Program of Medical Science (BL2012005), Jiangsu Province key Medical Center (ZX201102), and the Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD).

Supplemental data

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Additional information

Funding

This work was supported by the Suzhou Science and Technology Project (SY201217), University Science Research Project of Jiangsu Province (12KJB320011), Jiangsu Provincial Special Program of Medical Science (BL2012005), Jiangsu Province key Medical Center (ZX201102), and the Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD).