Final answer:
Bernard-Soulier syndrome is a genetic disorder caused by mutations in the genes coding for the GPIb-IX-V glycoprotein, leading to impaired platelet adhesion and resulting in bleeding complications.
Step-by-step explanation:
Bernard-Soulier syndrome (BSS) is a rare inherited blood disorder. It is caused by mutations in genes that code for the glycoprotein complex GPIb-IX-V, which is critical in the process of platelet adhesion. These mutations lead to deficiency or dysfunction of this glycoprotein on the surface of platelets, making it difficult for platelets to adhere to damaged blood vessels and initiate the formation of a blood clot. This impaired functionality results in the clinical symptoms of BSS, which include prolonged bleeding time, bruising, and sometimes severe bleeding episodes.
The mutations that cause BSS are typically autosomal recessive, meaning that an individual must inherit two copies of the faulty gene, one from each parent, to manifest the disorder. The GPIBA, GPIBB, and GP9 genes are commonly involved in BSS. Genetic testing can be used to confirm the diagnosis.