Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation

Journal of Hematology & Oncology

Changgeng Ruan¹  Xia Bai¹  Lijuan Cao¹  Zhaoyue Wang¹  KeSheng Dai¹  Jiaming Li¹ 

[1] Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, 188 Shizi Street, Suzhou 215006, China

关键词: Mutation;    Thrombocytopenia;    Glycoprotein Ib-IX complex;    Platelets;    Bernard-Soulier syndrome;   

Others  :  1219906
DOI  :  10.1186/s13045-015-0171-z

 received in 2015-06-04, accepted in 2015-06-11,  发布年份 2015

【 摘 要 】

Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative or qualitative abnormalities in the GP Ib-IX-V receptor. DNA sequencing analysis reveals the presence of a GP Ibα c.987G > A mutation and a FLNA c.1582 G > A mutation in this patient. Transient transfection studies show that GP Ibα c.987G > A mutation abolishes the surface expression of GP Ibα on the transfected CHO cells. On the other hand, abnormal responses to collagen, including the platelet aggregation, secretion, and GP VI signaling pathways, are associated with FLNA c.1582G > A mutation. Our findings confirm a central role for FLNA in platelet-adhesive functions. The interaction between FLNA and GP Ibα in platelets deserves to be investigated.

【 授权许可】

   
2015 Li et al.

【 图 表 】

Fig. 1.

【 参考文献 】

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