The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard–Soulier syndrome, with a missense variant in GP1BB.

Autor:	Ferrari, Silvia, Regazzo, Daniela, Cerbo, Anna, Cortella, Irene, Bertomoro, Antonella, Simioni, Paolo
Předmět:	MEDICAL genetics GENE expression GENETIC variation PLATELET count AMINO acid residues
Zdroj:	British Journal of Haematology; Aug2024, Vol. 205 Issue 2, p742-745, 4p
Abstrakt:	This article discusses a case of Bernard-Soulier Syndrome (BSS), a severe congenital bleeding disorder caused by deficiency or dysfunction of the glycoprotein GPIb-IX-V complex (GP complex) on platelets. The case involves a 17-year-old patient with thrombocytopenia and recurrent epistaxis. Genetic analysis revealed a homozygous frameshift variant in the GP9 gene and a missense variant in the GP1BB gene. The authors suggest that these variants may have a synergistic negative effect on the clinical phenotype of BSS. However, further functional studies are needed to confirm this hypothesis. [Extracted from the article]
Databáze:	Complementary Index
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