What are the clinical implications of gp1bb mutations?
Mutations in the gp1bb gene can lead to disorders such as Bernard-Soulier syndrome, a rare inherited bleeding disorder. This syndrome is characterized by a deficiency or dysfunction of the glycoprotein Ib-IX-V complex, leading to defective platelet adhesion and prolonged bleeding times. Histological examination of patients with Bernard-Soulier syndrome often reveals abnormally large platelets and a reduced number of functional glycoprotein complexes on the platelet surface.
