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@article{1863063, author = {Skalníková, Magdalena and Staňo Kozubík, Kateřina and Trizuljak, Jakub and Vrzalová, Zuzana and Radová, Lenka and Réblová, Kamila and Holbová, Radka and Kurucová, Terézia and Svozilová, Hana and Štika, Jiří and Blaháková, Ivona and Dvořáčková, Barbara and Prudková, Marie and Stehlíková, Olga and Šmída, Michal and Křen, Leoš and Smejkal, Petr and Pospíšilová, Šárka and Doubek, Michael}, article_location = {Basel}, article_number = {2}, doi = {http://dx.doi.org/10.3390/ijms23020885}, keywords = {Bernard-Soulier syndrome; monoallelic; autosomal dominant; GP1BA; macrothrombocytopenia}, language = {eng}, issn = {1422-0067}, journal = {International Journal of Molecular Sciences}, title = {A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome}, url = {https://www.mdpi.com/1422-0067/23/2/885}, volume = {23}, year = {2022} }
TY - JOUR ID - 1863063 AU - Skalníková, Magdalena - Staňo Kozubík, Kateřina - Trizuljak, Jakub - Vrzalová, Zuzana - Radová, Lenka - Réblová, Kamila - Holbová, Radka - Kurucová, Terézia - Svozilová, Hana - Štika, Jiří - Blaháková, Ivona - Dvořáčková, Barbara - Prudková, Marie - Stehlíková, Olga - Šmída, Michal - Křen, Leoš - Smejkal, Petr - Pospíšilová, Šárka - Doubek, Michael PY - 2022 TI - A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome JF - International Journal of Molecular Sciences VL - 23 IS - 2 SP - 1-13 EP - 1-13 PB - Multidisciplinary Digital Publishing Institute SN - 14220067 KW - Bernard-Soulier syndrome KW - monoallelic KW - autosomal dominant KW - GP1BA KW - macrothrombocytopenia UR - https://www.mdpi.com/1422-0067/23/2/885 N2 - Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency of the GPIb-IX-V complex also known as the von Willebrand factor (VWF) receptor. We investigated a family with macrothrombocytopenia, a mild bleeding tendency, slightly lowered platelet aggregation tests, and suspected autosomal dominant (AD) inheritance. We have detected a heterozygous GP1BA likely pathogenic variant, causing monoallelic BSS. A germline GP1BA gene variant (NM_000173:c.98G > A:p.C33Y), segregating with the macrothrombocytopenia, was detected by whole-exome sequencing. In silico analysis of the protein structure of the novel GPIb alpha variant revealed a potential structural defect, which could impact proper protein folding and subsequent binding to VWF. Flow cytometry, immunoblot, and electron microscopy demonstrated further differences between p.C33Y GP1BA carriers and healthy controls. Here, we provide a detailed insight into its clinical presentation and phenotype. Moreover, the here described case first presents an mBSS patient with two previous ischemic strokes. ER -
SKALNÍKOVÁ, Magdalena, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Lenka RADOVÁ, Kamila RÉBLOVÁ, Radka HOLBOVÁ, Terézia KURUCOVÁ, Hana SVOZILOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Barbara DVOŘÁČKOVÁ, Marie PRUDKOVÁ, Olga STEHLÍKOVÁ, Michal ŠMÍDA, Leoš KŘEN, Petr SMEJKAL, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome. \textit{International Journal of Molecular Sciences}. Basel: Multidisciplinary Digital Publishing Institute, 2022, vol.~23, No~2, p.~1-13. ISSN~1422-0067. Available from: https://dx.doi.org/10.3390/ijms23020885.
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