Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay
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DOI：
10.1002/ajmg.a.37275
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发表时间：
2015-11-01
影响因子：
2
通讯作者：
Kosaki, Kenjiro
中科院分区：
文献类型：
--
作者：
Takenouchi, Toshiki;Kosaki, Rika;Kosaki, Kenjiro
血小板减少症和发育迟缓的组合表型已被描述为两种遗传条件：染色体11q缺失，被称为雅各布森综合征，和21q22微缺失综合征。在这里，我们报告一个年轻的女孩谁提出了持续的大血小板减少症和发育迟缓。全外显子组测序揭示了CDC42（细胞骨架的关键调节因子）的一个从头氨基酸替换。我们的观察总结了缺乏Cdc42的小鼠的观察结果。我们认为这种CDC42突变可能代表了导致持续性大血小板减少症和发育迟缓的组合表型的另一种机制。(c) 2015 Wiley期刊公司
The combinatory phenotype of thrombocytopenia and developmental delay has been described for two genetic conditions: a chromosome 11q deletion that is referred to as Jacobsen syndrome, and a 21q22 microdeletion syndrome. Herein, we report a young girl who presented with persistent macrothrombocytopenia and a developmental delay. Whole exome sequencing revealed a de novo amino acid substitution in CDC42, a critical regulator of the cytoskeleton. Our observation recapitulates observations in mice lacking Cdc42. We suggest that this CDC42 mutation may represent yet another mechanism leading to the combinatory phenotype of persistent macrothrombocytopenia and developmental delay. (c) 2015 Wiley Periodicals, Inc.