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在神经管缺陷中,基于整个外体的变异概况和功能网络的表征

Nermin Akcali^1,2, Saliha Handan Yildiz³, Mujgan Ozdemir Erdogan³

¹Faculty of Engineering and Natural Sciences, Department of Molecular Biology and Genetics, Biruni University, Istanbul, 34015, Turkey. nakcali@biruni.edu.tr.

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概括

罕见的遗传变异导致除叶酸之外的神经管缺陷 (NTD),影响发育. 系统生物学有助于理解这些复杂的条件,以便更好地诊断和预防.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
系统生物学系统生物学

背景情况:

神经管缺陷 (NTD) 是一种严重的先天性形,具有复杂的多因素原因.
遗传,环境和代谢因素都会导致NTD.
叶酸强化在分子层面上并没有完全解释所有NTD病例.

研究的目的:

使用整体外基因组测序 (WES) 识别NTD患者的罕见致病变体.
通过系统生物学方法评估已识别的变异的功能意义.

主要方法:

在9名与NTD无关的患者身上进行整体外基因组测序 (WES).
使用ACMG-AMP标准和Franklin by Genoox平台进行变异过.
使用STRING和Metascape进行蛋白质与蛋白质相互作用和功能丰富分析.

主要成果:

七个基因 (PAH,ADGRG6,MPDZ,NARS1,ITGB2,PIGV,STIL) 含有罕见的临床显著变异.
识别了误解,停止增益和框架转移突变,具有异合体和同合体模式.
发现了一个子网络 (MPDZ,ITGB2),与紧密的结节和丰富的途径联系在一起,用于甲基醇胺代谢,地板发育和免疫调节.

结论:

支持一个多基因和机理多样化的NTD病原体模型.
罕见的变异影响关键的发育途径:新陈代谢,细胞粘附和神经发生.
将WES与系统生物学集成,可以改善用于诊断和预防的变异解释.

关键词:

发展信号发送的发展信号.NTDs 是一个NTD.蛋白质网络是一种蛋白质网络.罕见的致病变体罕见的致病变体在WES WES中,您可以使用

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