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

机译：具有血小板减少症的2个姐妹的新型纯合GFI1b变体和严重的出血趋势

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摘要

Genetic variants in growth factor-independent 1B (GFI18), encoding transcription factor GFI1B, are causative of platelet-type bleeding disorder-17. Presently, 53 cases of GFI18 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 GFI18 variant. We report a novel homozygous GFI18 (Thr174lle) variant located in the first Zinc finger domain of GFI18 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 GEM B associated IT: a reduced content of alpha granules and aberrant expression of the stem cell marker CD34 on platelets. Transcription factor GEM B 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.
机译：编码转录因子GFI1B的生长因子非依赖性1B（GFI18）的基因变异是血小板型出血性疾病-17的病因。目前，已有53例GFI18相关的遗传性血小板减少症（IT）发表，但只有三例为纯合子。这些患者的出血和血小板表型取决于GFI18变体的位置和遗传模式。我们报告了一个新的纯合子GFI18（Thr174lle）变体，位于GFI18的第一个锌指结构域，该结构域位于巴勒斯坦血缘父母所生的两个姐妹中。他们在血小板计数适度减少时出现严重出血倾向。流式细胞术和免疫荧光显微镜证实了与GEM B相关的诊断特征：血小板上α颗粒含量减少和干细胞标记物CD34的异常表达。转录因子GEMB在造血和淋巴细胞生成过程中差异表达。此外，在血小板功能研究中，我们还介绍了淋巴亚群分析和红细胞变形性的结果，这些结果是通过ektacytometry测量法测量的。

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