title: Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.
abstract: 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.
authors.affiliation: 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. lijiaming007007@126.com.
authors.forename: Jiaming
authors.initials: J
authors.lastname: Li
authors.affiliation: 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. daikesheng2014@126.com.
authors.forename: KeSheng
authors.initials: K
authors.lastname: Dai
authors.affiliation: 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. zwang201411@126.com.
authors.forename: Zhaoyue
authors.initials: Z
authors.lastname: Wang
authors.affiliation: 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. caolijuan2014@126.com.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Cao
authors.affiliation: 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. baixia201411@126.com.
authors.forename: Xia
authors.initials: X
authors.lastname: Bai
authors.affiliation: 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. ruanchanggeng2014@126.com.
authors.forename: Changgeng
authors.initials: C
authors.lastname: Ruan
mesh_terms: D001606:Bernard-Soulier Syndrome; D001792:Blood Platelets / Q000378:metabolism*; D064448:Filamins / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D013921:Thrombocytopenia / Q000378:metabolism*
chemical_list: D064448:Filamins