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

Platelets
Lijuan CaoChanggeng Ruan

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.

References

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Citations

Jun 6, 2018·Platelets·Fred G PlutheroWalter H A Kahr
Jul 28, 2019·Current Opinion in Hematology·Fred G Pluthero, Walter H A Kahr
Feb 16, 2021·American Journal of Clinical Pathology·Hamza TariqEdward A Medina
Aug 20, 2021·Journal of Blood Medicine·Ana C GlembotskyPaula G Heller

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