IllnessBernard-Soulier syndrome, differential diagnosis

NGS +

Bernard-Soulier syndrome is a rare bleeding disorder that is associated with abnormal platelets. In affected individuals, macrothrombocytopenia often causes bruising, epistaxis and severe, prolonged bleeding or even spontaneous bleeding with petechiae. Affected women often have menorrhagia. Most mutations in the GP1BA, GP1BB or GP9 genes prevent formation of the GPIb-IX-V complex on the surface of platelets or impair interaction with von Willebrand factor. All mutations impair clot formation. Most often, Bernard-Soulier syndrome is inherited in an autosomal recessive manner, whereas only rare cases are due to mutations in the GP1BA or GP1BB genes, which are inherited in an autosomal dominant manner. The diagnostic yield in molecular genetics is not precisely known, even when using extended gene panels in differential diagnosis. Therefore, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK557671/

• Alias: Bleeding disorder, platelet-type, 1
• Alias: Deficiency of platelet glycoprotein 1b
• Alias: Giant platelet syndrome
• Alias: Glycoprotein Ib, platelet, deficiency of
• Alias: Hemorrhagioparous thrombocytic dystrophy
• Alias: Macrothrombocytopenia, familial Bernard-Soulier type
• Alias: Platelet glycoprotein Ib deficiency
• Alias: Von Willebrand factor receptor deficiency
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: Gallbladder disease 4 (ABCG8)
• Bernard-Soulier syndrome, type A1, AR (GP1BA)
• Bernard-Soulier syndrome, type B (GP1BB)
• Bernard-Soulier syndrome, type C (GP9)
• Bleeding disorder, platelet-type 11 (GP6)
• Bleeding disorder, platelet-type 13, susceptibility to (TBXA2R)
• Bleeding disorder, platelet-type 15 (ACTN1)
• Bleeding disorder, platelet-type 16, AD; Glanzmann thrombasthenia (ITGA2B, ITGB3)
• Bleeding disorder, platelet-type 17 (GFI1B)
• Bleeding disorder, platelet-type 18 (RASGRP2)
• Bleeding disorder, platelet-type 19 (PRKACG)
• Bleeding disorder, platelet-type 21 (FLI1)
• Giant platelet disorder, isolated (GP1BB)
• Gray platelet syndrome (NBEAL2)
• Macrothrombocytopenia + granulocyte inclusions with/-out nephritis/sensorineural hearing loss (MYH9)
• Sitosterolemia 1 (ABCG8)