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对于异位脑内的基因组诊断

Changrui Xiao¹, Thomas Cassini¹, Daniel Benavides¹

¹From the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.

Neurology. Genetics

|August 7, 2023

概括

在超过三分之一的患者中,基因组测试确定了异位脑内化 (EIC) 的遗传原因. 这支持对患有不明原因EIC的个体进行基因分析.

科学领域:

神经成像是一种神经成像.
遗传学是一个遗传学.
神经学神经学

背景情况:

异位脑内化 (EICs) 在各种疾病中观察到,偶尔在脑部扫描上也观察到.
临床意义和EICs的遗传基础在很大程度上是未知的.

研究的目的:

在没有先前诊断的EIC患者中调查临床,成像和基因组发现.
确定可归因于潜在遗传原因的EIC病例的比例.

主要方法:

对44名患有EIC的患者进行了回顾性队列研究.
综合性临床,成像和基因组分析.

主要成果:

在44名患者中,基因组测试在15名患者 (34%) 中产生了诊断.
两名患者接受了以前与EICs无关的诊断.
六名患者的基因 (PDGFB,PDGFRB,SLC20A2,XPR1) 发生突变,与异常基底腺结有关.

结论:

基因组测试对于诊断患有EICs的症状患者非常有价值.
基因分析可以揭示新的原因,并确认已知EICs的遗传联系.

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