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儿科发育性和性脑病变 (DEE) 的代谢原因 - - 南印度队列中的遗传变异分析

Manna Jose¹, Alfiya Fasaludeen¹, Harini Pavuluri¹

¹Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

|January 6, 2024

概括

基因测试在患有发育性和性脑病变 (DEE) 的儿童中发现了代谢变异,有助于诊断和治疗. 这种方法为管理提供了生物化学测试的经济有效的替代方案.

科学领域:

神经遗传学神经遗传学
代谢障碍代谢障碍代谢障碍
的研究研究.

背景情况:

耐药性通常与代谢的先天性错误有关.
神经元中的代谢功能障碍在导致精神运动障碍的脑疾病中至关重要.
通过下一代测序对发育性和性脑病变 (DEE) 的代谢原因的诊断率还未得到充分研究.

研究的目的:

评估基因测试的诊断实用性,以确定DEE的代谢原因.
评估DEE儿童代谢基因中致病变异的发生率.
探索这些遗传发现的治疗和预后影响.

主要方法:

一项前性医院研究涉及384名被诊断患有DEE的儿童.
对所有参与者进行了基因检测.
生物化学测试 (血液,尿液,脑脊液) 用于评估代谢障碍.

主要成果:

在384名儿童中,在154名儿童中发现了致病性/可能致病性变体.
在89名怀疑有代谢障碍的儿童中,39名 (43.8%) 发现了变异,其中28名 (31.4%) 显示出不确定的意义 (VUS) 的变异.
鉴定出的变异与各种类型有关,包括渐进性肌性,焦点/多焦点发作,泛性,早期肌性脑病变,伦诺克斯-加斯托综合征和韦斯特综合征.

结论:

对代谢变异的基因测试在指导调查方面是有效的,对DEE患者有治疗意义.
这种遗传方法在DEE的诊断和预后方面具有很高的实用性.
该研究强调了与代谢性的生物化学测试相比的成本效益和更高的诊断产量.

关键词:

生物化学试验生物化学试验发育性和性脑病变,发育性和性脑病变.代谢基因是代谢基因.下一代测序测序是什么变种变种变种变种

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