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鉴定PTCH2中罕见的变异,与非综合征性口口面裂相关

Xuqin Liang¹, Qing He¹, Yuhua Jiao²

¹Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, Shaanxi, PR China.

|February 15, 2024

概括

在PTCH2中的遗传变异可能会导致非综合征性口腔裂 (NSOFCs). 这项研究在NSOFC患者中发现了罕见的PTCH2变异,表明PTCH2是这些常见的面异常的新型候选基因.

科学领域:

遗传学遗传学是一个
发展生物学发展生物学
医学科学医学科学医学科学

背景情况:

口腔口腔裂 (OFCs) 是一种常见的先天性面异常,影响外观,口腔功能和心理健康.
非综合征性OFC (NSOFC) 是最常见的类型,病因涉及遗传和环境因素.
刺信号通路,特别是PTCH1,涉及NSOFCs,但其对应物PTCH2的作用是未知的.

研究的目的:

调查PTCH2变异在零星非综合征性口腔口腔裂 (NSOFCs) 病原发生中的潜在作用.

主要方法:

在144名零星NSOFC患者身上进行了全外体测序.
使用基因组数据库,分析了鉴定到的PTCH2变异的稀有性.
使用预测结构建模 (AlphaFold, SWISS-MODEL) 来评估变异对蛋白质结构的影响.

主要成果:

在四名NSOFC患者中发现了五种异构的PTCH2变体 (p.L104P,p.A131G,p.R557H,p.I927S,p.V978D).
两种变种 (p.I927S,p.V978D) 是新鲜且未报告的.
受影响的氨基酸在进化过程中被保存,预测模型表明PTCH2蛋白质结构和功能受到干扰.

结论:

PTCH2变异与非综合征性口腔面部裂有关.
建议PTCH2作为NSOFCs的新型候选基因.
这些发现扩大了已知导致面异常的遗传因素.

关键词:

头骨脸部异常情况刺信号通道的信号通道非综合症的面孔裂.在 PTCH2 中.罕见的变种罕见的变种整体外基因组测序的测序

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