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@article{1498777,
author = {Trizuljak, Jakub and Staňo Kozubík, Kateřina and Radová, Lenka and Pešová, Michaela and Pál, Karol and Réblová, Kamila and Stehlíková, Olga and Smejkal, Petr and Zavřelová, Jiřina and Pacejka, M. and Mayer, Jiří and Pospíšilová, Šárka and Doubek, Michael},
article_location = {PHILADELPHIA},
article_number = {8},
doi = {http://dx.doi.org/10.1080/09537104.2018.1529300},
keywords = {Autosomal dominant variant; GP1BA; Inherited thrombocytopenia; monoallelic Bernard-Soulier syndrome},
language = {eng},
issn = {0953-7104},
journal = {Platelets},
title = {A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome},
url = {https://www.tandfonline.com/doi/full/10.1080/09537104.2018.1529300},
volume = {29},
year = {2018}
}
TY - JOUR
ID - 1498777
AU - Trizuljak, Jakub - Staňo Kozubík, Kateřina - Radová, Lenka - Pešová, Michaela - Pál, Karol - Réblová, Kamila - Stehlíková, Olga - Smejkal, Petr - Zavřelová, Jiřina - Pacejka, M. - Mayer, Jiří - Pospíšilová, Šárka - Doubek, Michael
PY - 2018
TI - A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
JF - Platelets
VL - 29
IS - 8
SP - 827-833
EP - 827-833
PB - TAYLOR & FRANCIS INC
SN - 09537104
KW - Autosomal dominant variant
KW - GP1BA
KW - Inherited thrombocytopenia
KW - monoallelic Bernard-Soulier syndrome
UR - https://www.tandfonline.com/doi/full/10.1080/09537104.2018.1529300
N2 - Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members. Using whole-exome sequencing of germline DNA samples, we identified a heterozygous single-nucleotide change in GP1BA (exone2:c.176T>G), encoding a p.Leu59Arg substitution in the N-terminal domain, segregating with macrothrombocytopenia. This variant has not been previously reported. We also analysed the structure of the detected sequence variant in silica In particular, we used the crystal structure of the human platelet receptor GP lba N-terminal domain. Replacement of aliphatic amino-acid Leu 59 with charged, polar and larger arginine probably disrupts the protein structure. An autosomal dominant mode of inheritance, a family history of mild bleeding episodes, aggregation pattern in affected individuals together with evidence of mutation occurring in part of the GP1BA gene encoding the leucine-rich repeat region suggest a novel variant causing monoallelic Bernard-Soulier syndrome.
ER -
TRIZULJAK, Jakub, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Michaela PEŠOVÁ, Karol PÁL, Kamila RÉBLOVÁ, Olga STEHLÍKOVÁ, Petr SMEJKAL, Jiřina ZAVŘELOVÁ, M. PACEJKA, Jiří MAYER, Šárka POSPÍŠILOVÁ a Michael DOUBEK. A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. \textit{Platelets}. PHILADELPHIA: TAYLOR \&{}amp; FRANCIS INC, roč.~29, č.~8, s.~827-833. ISSN~0953-7104. doi:10.1080/09537104.2018.1529300. 2018.
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