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A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency

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@article{cc0469163e5a4c8fa799f2aa7d451110,
title = "A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency",
abstract = "Genetic variants in growth factor-independent 1B (GFI1B), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however only three were homozygous. The bleeding- and platelet phenotypes of these patients depend on location and inheritance pattern of the GFI1B variant. We report a novel homozygous GFI1B (Thr174Ile) variant located in the first Zinc finger domain of GFI1B in two sisters of Palestinian ancestry born to consanguineous parents. They experienced severe bleeding tendency at moderately reduced platelet counts. Flow cytometry and immunofluorescent microscopy confirmed the diagnostic features of GFI1B associated IT: a reduced content of alpha granules and aberrant expression of the stem cell marker CD34 on platelets. Transcription factor GFI1B is differentially expressed during hemato- and lymphopoiesis. In addition, to platelet function investigations, we present results of lymphoid subgroup analyses and deformability of red cells measured by ektacytometry.",
keywords = "GFI1B, inherited thrombocytopenia, platelet disorder and ektacytometry, inherited thrombocytopenia;platelet disorder and ektacytometry",
author = "Nanna Br{\o}ns and Carlo Zaninetti and Ostrowski, {Sisse Rye} and Jesper Petersen and Andreas Greinacher and Maria Rossing and Eva Lein{\o}e",
note = "Publisher Copyright: {\textcopyright} 2020, {\textcopyright} 2020 Taylor & Francis Group, LLC. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2021",
month = jul,
day = "4",
doi = "10.1080/09537104.2020.1786041",
language = "English",
volume = "32",
pages = "701--704",
journal = "Platelets",
issn = "0953-7104",
publisher = "Informa Healthcare",
number = "5",

}

RIS

TY - JOUR

T1 - A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency

AU - Brøns, Nanna

AU - Zaninetti, Carlo

AU - Ostrowski, Sisse Rye

AU - Petersen, Jesper

AU - Greinacher, Andreas

AU - Rossing, Maria

AU - Leinøe, Eva

N1 - Publisher Copyright: © 2020, © 2020 Taylor & Francis Group, LLC. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2021/7/4

Y1 - 2021/7/4

N2 - Genetic variants in growth factor-independent 1B (GFI1B), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however only three were homozygous. The bleeding- and platelet phenotypes of these patients depend on location and inheritance pattern of the GFI1B variant. We report a novel homozygous GFI1B (Thr174Ile) variant located in the first Zinc finger domain of GFI1B in two sisters of Palestinian ancestry born to consanguineous parents. They experienced severe bleeding tendency at moderately reduced platelet counts. Flow cytometry and immunofluorescent microscopy confirmed the diagnostic features of GFI1B associated IT: a reduced content of alpha granules and aberrant expression of the stem cell marker CD34 on platelets. Transcription factor GFI1B is differentially expressed during hemato- and lymphopoiesis. In addition, to platelet function investigations, we present results of lymphoid subgroup analyses and deformability of red cells measured by ektacytometry.

AB - Genetic variants in growth factor-independent 1B (GFI1B), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI1B associated inherited thrombocytopenia (IT) have been published, however only three were homozygous. The bleeding- and platelet phenotypes of these patients depend on location and inheritance pattern of the GFI1B variant. We report a novel homozygous GFI1B (Thr174Ile) variant located in the first Zinc finger domain of GFI1B in two sisters of Palestinian ancestry born to consanguineous parents. They experienced severe bleeding tendency at moderately reduced platelet counts. Flow cytometry and immunofluorescent microscopy confirmed the diagnostic features of GFI1B associated IT: a reduced content of alpha granules and aberrant expression of the stem cell marker CD34 on platelets. Transcription factor GFI1B is differentially expressed during hemato- and lymphopoiesis. In addition, to platelet function investigations, we present results of lymphoid subgroup analyses and deformability of red cells measured by ektacytometry.

KW - GFI1B

KW - inherited thrombocytopenia

KW - platelet disorder and ektacytometry

KW - inherited thrombocytopenia;platelet disorder and ektacytometry

U2 - 10.1080/09537104.2020.1786041

DO - 10.1080/09537104.2020.1786041

M3 - Journal article

C2 - 32633597

VL - 32

SP - 701

EP - 704

JO - Platelets

JF - Platelets

SN - 0953-7104

IS - 5

ER -

ID: 61674837