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在DEPDC5中出现了一种新的变异,导致具有可变焦点的家族焦点

Yanchi Wang^1,2,3,4, Wenbin Niu^1,2,3,4, Hao Shi^1,2,3,4

¹Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Frontiers in genetics

|July 8, 2024

概括

一种新的DEPDC5基因变异,c.1217 + 2T>A,在一个患有可变焦点家族焦点 (FFEVF) 的家庭中被确定. 这种拼接变体可能会导致蛋白质功能障碍,扩大FFEVF的已知遗传原因.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
分子生物学分子生物学

背景情况:

脱节,EGL-10和链 (DEP) 域含有蛋白5 (DEPDC5) 是GATOR1复合体的关键组成部分,它调节mTORC1通路.
包括DEPDC5在内的GATOR1复合物的变异与具有可变焦点 (FFEVF) 的家族焦点有关.
整体外基因组测序 (WES) 在FFEVF家族中越来越多地发现了DEPDC5变异.

研究的目的:

为了调查FFEVF的遗传病因在一个家庭怀疑DEPDC5相关的条件.
为了描述在试验中发现的新型DEPDC5变异的功能影响.

主要方法:

整个外体序列测序 (WES) 在试验对象上进行.
桑格测序被用来确认家族成员的变种.
进行了小型基因拼接试验,以评估变异对替代拼接的影响.

主要成果:

在DEPDC5基因中发现了一种新的拼接变体c.1217 + 2T>A.
证实了c.1217 + 2T>A变体对替代拼接产生影响,从而导致内部纳入.
预计这种拼接缺陷会导致蛋白质过早终止和功能丧失.

结论:

在DEPDC5中c.1217 + 2T>A变异可能是该家族中FFEVF的遗传原因.
这一发现扩大了与FFEVF相关的已知DEPDC5突变的范围.
这项研究为FFEVF提供了新的病因洞察力.

关键词:

的,EGL-10,以及含有pleckstrin域的蛋白质5.焦点性 - 焦点性基因变异基因变异在 mTORC1 路径上.迷你基因拼接测试试验

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