Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies
Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies
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DOI：
10.1101/cshperspect.a028258
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发表时间：
2017-09-01
影响因子：
7.2
通讯作者：
Brugmann, Samantha A.
中科院分区：
文献类型：
--
作者：
Schock, Elizabeth N.;Brugmann, Samantha A.
百分之七十五的先天性疾病表现为某种形式的颅面畸形。这些畸形的发生频率和严重程度使得了解其病因学基础对于诊断和治疗至关重要。几年前，颅面畸形和原发性纤毛之间出现了显着的联系，确定大约 30% 的纤毛病可以主要由颅面表型来定义。纤毛和面部之间的联系已被证明是重要的，因为最近诊断出了几种新的“颅面纤毛病”。在此，我们重新评估公共疾病数据库，报告几种新的颅面纤毛病，并提出几种“预测的”颅面纤毛病。此外，我们讨论了为什么颅面复合体对纤毛功能障碍如此敏感，解决了纤毛的组织特异性功能及其在与颅面发育相关的信号转导中的作用。总体而言，这些分析表明与颅面纤毛病相关的特征性面部表型可能可用于将来快速发现和诊断类似疾病。
Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that similar to 30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed. Herein, we reevaluate public disease databases, report several new craniofacial ciliopathies, and propose several "predicted" craniofacial ciliopathies. Furthermore, we discuss why the craniofacial complex is so sensitive to ciliopathic dysfunction, addressing tissue-specific functions of the cilium as well as its role in signal transduction relevant to craniofacial development. As a whole, these analyses suggest a characteristic facial phenotype associated with craniofacial ciliopathies that can perhaps be used for rapid discovery and diagnosis of similar disorders in the future.