A Novel Variant of GP9 Gene Resulting in Bernard-Soulier Syndrome: A Case Report.

Bernard-Soulier syndrome (BSS) is a rare autosomal recessive condition that is defined by low platelet count and platelet dysfunction characterized by the absence or dysfunction of the  complex on the platelet surface. It is characterized by large defective platelets and thrombocytopenia. BSS is usually presented early in life. Clinical manifestations of BSS include bleeding that affects both the skin and mucous membranes, including purpura, nasal, and gum bleeding. Also, it can present with symptoms, such as menometrorrhagia or gastrointestinal bleeding. Herein, we describe the case of a five-year-old girl with a novel variant of the gene resulting in BSS type C, with silent clinical manifestation with the exception of a pattern of easy bruising.