Abstract:
:Bernard-Soulier syndrome (BSS) is a rare autosomal recessive genetic disorder characterized by thrombocytopenia, circulating giant platelets, and prolonged bleeding time. BSS is explained by a defect in primary hemostasis owing to quantitative or qualitative defect in the GPIb-IX-V complex, composed of four subunits: GPIbalpha, GPIbbeta, GPIX, and GPV. In this study, we report a novel GPIbbeta defect in a Tunisian family, in which Serine 23 is substituted by a Stop codon causing a premature termination of translation. This defect was homozygous in the BSS patient and heterozygote in both the parents and sisters of the patient. We studied the effect of this mutation on the expression of the GPIb-IX complex by western blot, flow cytometry, and confocal microscopy: GPIbalpha and GPIX were absent on the surface of platelets, whereas they were present in the cytoplasm. These results led to conclude that the novel Ser 23 Stop mutation in GPIbbeta is responsible of BSS in the studied family and hampers the complex to form on the platelets surface.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Hadjkacem B,Elleuch H,Gargouri J,Gargouri Adoi
10.1007/s00277-008-0611-8subject
Has Abstractpub_date
2009-05-01 00:00:00pages
465-72issue
5eissn
0939-5555issn
1432-0584journal_volume
88pub_type
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