A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.

: The Bernard-Soulier syndrome (BSS) is a rare disease with a prevalence of 1/1000 000; it is characterized by macrothrombocytopenia. BSS develops as a result of a defect in the glycoprotein GPIb-IX-V complex on the platelet surface. In this article, we present a pediatric patient with the novel mutation that has been identified for the first time in BSS. A 13-month-old male patient was admitted with severe thrombocytopenia unresponsive to intravenous immunoglobulin in the neonatal period and recurrent mucocutaneous bleeding which initiated at 5 months of age. glycoprotein (GP) IX (CD42a) expression was normal as per flow cytometry results. Genetic analysis revealed a homozygous c.243C>A (p.Cys81) (p.C81) mutation. This novel mutation identified by us presents with severe thrombocytopenia and normal GPIX (CD42a) expression and is mistaken for immune thrombocytopenia in the neonatal period. This mutation creates an early stop codon and possibly leads to loss of function of the receptor.