Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

We report here the case of a BSS patient who presented with persistent thrombocytopenia (31x10(9)/L) and decreased surface expression of GPIb-IX-V on large platelets with anisocytosis. Thorough molecular analyses disclosed two previously unreported GP9 variants, respectively c.230T>A (p.Leu77Gln) and c.255C>A (p.Asn85Lys). Both are likely to modify the conformation of GP-IX interactions with other glycoproteins of the Ib-IX-V complex and thus proper expression of this complex on the membrane of platelets. PMID: 29119855 [PubMed - as supplied by publisher]
Source: Platelets - Category: Hematology Tags: Platelets Source Type: research