Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia
Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia
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进一步证据表明 CDC42 突变是可识别的血小板减少综合征形式的原因
DOI：
10.1002/ajmg.a.37526
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发表时间：
2016
影响因子：
2
通讯作者：
K. Kosaki
中科院分区：
文献类型：
--
作者：
T. Takenouchi;N. Okamoto;S. Ida;Tomoko Uehara;K. Kosaki
我们以前记录了一个女孩与巨血小板减少症和发育迟缓谁进行了从头突变的CDC42，这在细胞周期和肌动蛋白细胞骨架的形成起着关键作用。缺乏Cdc42的小鼠的表型与报告的患者的表型惊人地相似，表明CDC42中的突变引起血小板减少症的新综合征形式。在此，我们报告另一个无关的女性患者具有相似的表型和从头突变，在相同的CDC42。目前的观察结果提供了进一步的证据，支持CDC 42突变导致可识别的血小板减少综合征形式的观点。这种疾病的主要特征包括血小板减少、发育迟缓、下肢水肿、弯曲趾和独特的面部特征。© 2015威利期刊公司.
We previously documented a girl with macrothrombocytopenia and developmental delay who carried a de novo mutation in CDC42, which plays pivotal roles in the cell cycle and the formation of the actin cytoskeleton. The phenotype of mice lacking Cdc42 was strikingly similar to that of the reported patient, indicating that the mutation in CDC42 causes a new syndromic form of thrombocytopenia. We, herein, report another unrelated female patient with a similar phenotype and a de novo mutation in the same CDC42. The present observation provides further evidence supporting the notion that a mutation in CDC42 causes a recognizable syndromic form of thrombocytopenia. The cardinal features of this entity include macrothrombocytopenia, developmental delay, lymphedema in the lower extremities, camptodactyly, and distinctive facial features. © 2015 Wiley Periodicals, Inc.