由于GRIN2A基因中的框架转移突变引起的神经发育障碍:一个病例报告
Chen Xu1, Man-Li Wang1, Wei-Hao Ling1
1Department of Neurology, Children's Hospital of Soochow University, Suzhou, China.
Translational pediatrics
|July 21, 2025
概括
一种新型的GRIN2A变种在儿童中引起了早期的和延迟的而没有发作. 免疫疗法改善了症状,减少了电图异常,扩大了GRIN2A相关疾病的治疗选择.
科学领域:
- 神经遗传学 神经遗传学
- 神经发育障碍 神经发育障碍
- 症综合征 症综合征
背景情况:
- 编码N-甲基-D-亚斯巴酸受体 (NMDAR) 的GluN2A亚单元的GRIN2A中的致病变体与神经发育障碍有关,特别是-失语谱系障碍.
- 没有临床发作的表现,如孤立的动脉,在与GRIN2A相关的疾病中较少报告.
研究的目的:
- 为了描述以前未报告的GRIN2A框架转移变体.
- 详细介绍这种变体患者的临床和电生理学表现,包括早期发病的动力衰竭和延迟发病的电图异常.
- 为了评估这个患者对免疫治疗的反应.
主要方法:
- 一个23个月大的男孩的病例报告,患有亚急性步行.
- 综合诊断工作包括神经成像,脑脊液分析和自身免疫面板.
- 基于trio的全基因组测序来识别遗传变异.
- 视频电脑电图 (EEG) 监测以评估电图活动.
- 对免疫治疗 (皮质类固醇和IVIG) 的反应评估.
主要成果:
- 在GRIN2A (c.1717delG,p.Val573Phefs*16) 中发现了一种新型异质合体框架转移变体.
- 患者呈现出早期发作的动力衰退,言语回归和全球发育迟缓,没有明显的发作,但有显著的电图异常 (ESES).
- 免疫疗法导致了显著的临床改善和型出院的减少,患者仍然没有发作.
结论:
- 这一案例扩大了GRIN2A相关疾病的表型谱,包括早期隔离性动症和没有临床的延迟电图.
- 早期遗传检测对于诊断非典型神经发育综合征非常有价值.
- 免疫疗法可能在GRIN2A相关疾病中提供临床和电生理学益处,即使在假定的NMDAR功能丧失状态中也是如此.
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