Like Father, Like Daughter: A Family With a Constitutional Thrombocytopenia Variant Due to a Novel Heterozygous Missense Mutation in GP1BA.

Abstract

Constitutional platelet disorders have become better understood since Bernard and Soulier first described a case in 1948. Their diagnosis can also be challenging due to overlap in clinical presentation and lab findings with platelet type von Willebrand. Bernard-Soulier syndrome is a disorder caused by GPIb receptor mutations that decrease its affinity for von Willebrand factor resulting in reduced platelet function and macrothrombocytopenia. It is associated with multiple genetic mutations in either GPIBA, GPIBB, GP9, or GP5. We present a case report of a family with a Bernard Soullier-like thrombocytopenia variant due to a heterozygous missense mutation in GPIBA.