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案例报告:扩大了TRPM3相关神经发育障碍的表型划分

Agnieszka Pawelak¹, Artur Polczyk², Ewelina Wolańska³

¹Department of Genetics, Medical University of Wroclaw, Wroclaw, Poland.

Frontiers in pediatrics

|December 6, 2024

概括

一种罕见的TRPM3基因变异 (c.2509G>A) 在一名儿科患者中引起发育迟缓,低血压和神经问题. 这一案例凸显了该变体的影响以及对TRPM3相关疾病治疗的需求.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
发展生物学发展生物学

背景情况:

TRPM3基因编码了一种对感官感知和离子运输至关重要的离子通道.
在TRPM3的突变与各种神经和发育障碍有关.
特定的c.2509G>A变体导致了关键的p.(Val837Met) 氨基酸替代.

研究的目的:

报告患有致病性TRPM3变异的儿科病例.
描述与TRPM3 c.2509G>A变体相关的复杂临床表型.
为了强调TRPM3相关疾病的表型变异性和治疗需求.

主要方法:

一个儿科患者的临床病例介绍.
基因测序以确定TRPM3变种.
表型评估包括发育里程碑,神经学检查,EEG和眼科评估.

主要成果:

一名男性儿科患者呈现了致病性TRPM3变体c.2509G>A [p.
患者表现出发育迟缓,严重的低血压,延迟的运动里程碑 (例如,无法独立坐到20个月),以及异常的EEG发现.
还观察到眼科问题 (视障,),行为异常和认知障碍.

结论:

在TRPM3中的p.(Val837Met) 变体有助于复杂的神经发育表型.
这一案例说明了与TRPM3变种相关的显著表型变异.
进一步的研究对于开发针对TRPM3相关疾病的有针对性的治疗策略至关重要.

关键词:

在TRPM3中,TRPM3是什么?自闭症谱系障碍自闭症谱系障碍在新的变种 de novo 变种.智力障碍智力障碍是一种智力障碍.神经发育的神经发育

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