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轻微的TSC表型和与TSC2中的位变异相关的非透性促使在评估位变异变异的致病性时谨慎行事

Laura S Farach¹, Hope Northrup¹, Mark Nellist²

¹Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.

|June 13, 2023

概括

由NIPS确定的一种TSC2位变异被发现,由于密码拼接,它保留了TSC2蛋白的功能,而不是导致典型的结核性硬化症复杂症状. 这凸显了需要进行功能性研究来确认变种的致病性.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
医学诊断医学诊断医学诊断

背景情况:

非侵入性产前查 (NIPS) 能够早期识别遗传变异.
准确预测变体的致病性至关重要,特别是没有明确的表型.
结核性硬化综合体 (TSC) 是一种由TSC2基因变异引起的遗传疾病.

研究的目的:

调查NIPS在一个具有最小TSC特征的家族中发现的TSC2框架转移变异的致病性.
为了确定变异是否导致TSC2蛋白功能丧失或保留功能.
评估变种病原性预测模型的准确性.

主要方法:

收集了家庭成员的表型数据.
在试验对象mRNA上进行RT-PCR和桑格测序.
通过TSC2变异蛋白的短暂表达和免疫阻塞进行了功能性研究.

主要成果:

患有该变异的家庭成员几乎没有或没有主要的TSC诊断标准.
RNA研究揭示了神秘的拼接,产生一个框架内删除转录.
功能性研究证实,由此产生的TSC2蛋白产品保持了正规功能.

结论:

这种c.4255_4256delCA TSC2变种产生了一个神秘的拼接部位,保留了蛋白质功能,并解释了TSC表型的缺乏.
变种病原性预测模型可能不准确;功能确认至关重要.
基于RNA和蛋白质的研究增强了分子遗传诊断,特别是对于缺乏表型相关性的变体.

关键词:

遗传咨询遗传咨询遗传咨询基因型表型协会基因型表型协会非侵入性的产前查.这就是TSC2的特点.结核性硬化综合体结核性硬化综合体

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