A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome. (3rd April 2018)

• Record Type: Journal Article
• Authors: Cao, Lijuan; Su, Jian; Li, Jiaming; Yu, Ziqiang; Bai, Xia; Wang, Zhaoyue; Xia, Lijun; Ruan, Changgeng
• Is Part Of: Platelets. Volume 29:Number 3(2018)
• Page Start: 288
• Page End: 291
• Publication Date: 2018-04-03
• Subjects: Corpus luteum rupture -- gene mutation -- gray platelet syndrome -- NBEAL2 -- menorrhagia; Blood platelets -- Periodicals; Blood Platelets -- Periodicals; 615.39
• DOI: 10.1080/09537104.2017.1306041
• Languages: English
• ISSNs: 0953-7104

Abstract

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.