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Bernard–Soulier syndrome: first human case due to a homozygous deletion of GP9 gene
- Source :
- British Journal of Haematology, British Journal of Haematology, 2020, 188 (6), ⟨10.1111/bjh.16374⟩, British Journal of Haematology, Wiley, 2020, 188 (6), ⟨10.1111/bjh.16374⟩
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- International audience; Bernard–Soulier Syndrome (BSS) is a rare (1:1 million) hereditary bleeding disorder caused by defects in the platelet glycoprotein (GP)‐Ib/IX/V complex, a receptor for von Willebrand factor (VWF) and thrombin (Lanza, 2006; Berndt & Andrews, 2011). Patients typically present with epistaxis, petechial or gingival bleeding with onset already in infancy. They present with macrothrombocytopenia and their platelets do not agglutinate in response to ristocetin, while maintaining a normal aggregation in response to a variety of aggregating agents. GPIb/IX/V complex consists of two GPIbα and four GPIbβ subunits stabilized by disulphide bonds (Luo et al., 2007). This heterodimer is non‐covalently associated with two GPIX and one GPV subunits. The N‐terminal residues of GPIbα form seven leucine‐rich repeats (LRRs) and include the binding sites for VWF and thrombin. BSS is due to biallelic loss‐of‐function pathogenic variants (deletions, insertions and nonsense mutations) in GPIBA, GPIBB or GP9 genes encoding GPIb/IX/V complex (Savoia et al., 2014). However, so far, no mutation in GP5 causing BSS has been reported yet. Most of the mutations prevent the formation of the complex or trafficking it through the endoplasmic reticulum and Golgi apparatus and alter receptor expression (Salles et al., 2008; Savoia et al., 2011; Nurden et al., 2012).
- Subjects :
- Male
Platelet aggregation
[SDV]Life Sciences [q-bio]
Platelet disorder
thrombocytopenia
platelet membrane
Biology
platelet genetic diseases
Bernard–Soulier syndrome
03 medical and health sciences
0302 clinical medicine
Bone Marrow
medicine
Humans
platelet disorders
Gene
Sequence Deletion
030304 developmental biology
0303 health sciences
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology
Infant, Newborn
Bernard-Soulier Syndrome
Hematology
medicine.disease
Pedigree
3. Good health
[SDV] Life Sciences [q-bio]
Platelet Glycoprotein GPIb-IX Complex
platelet aggregation
Immunology
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
030215 immunology
Subjects
Details
- ISSN :
- 13652141 and 00071048
- Volume :
- 188
- Database :
- OpenAIRE
- Journal :
- British Journal of Haematology
- Accession number :
- edsair.doi.dedup.....8a6ed63ff2c126434d3515d1684a0828