由EIF2B5 c.185A>T (p.Asp62Val) 变种引起的成人发病消失白质疾病
Jie Zhou1, Chunbo Ji2, Siqing Ma3
1Clinical College of Ningxia Medical University, Yinchuan, Ningxia, China.
Frontiers in genetics
|February 17, 2026
概括
这项研究报告了一例罕见的成年失踪白质病 (VWMD) 病例,由EIF2B5基因变异引起,扩大了这种白血病的已知谱. 早期基因检测对于VWMD的诊断和管理至关重要.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 消失白质病 (VWMD),也称为带有中枢神经系统低血质化 (CACH) 的儿童性动力衰竭,是一种罕见的,自体递归性白血病.
- 它是由EIF2B基因家族 (EIF2B1-EIF2B5) 中的致病变异引起的.
- 成年人发病的VWMD很少见,并且经常呈现异常症状,使得诊断具有挑战性.
研究的目的:
- 报告一个32岁的女性患有成人发病的VWMD的新案例.
- 描述这个病例的临床和遗传特征.
- 为了扩大对成年人发病VWMD的基因型-表型相关性的理解.
主要方法:
- 一个32岁的中国女性患有VWMD症状的案例介绍.
- 头骨磁共振成像 (MRI) 与扩散加权成像 (DWI).
- 整体外体序列 (WES) 用于遗传分析.
主要成果:
- 患者出现了头痛,认知能力下降,月经不规则和听力损失.
- 核磁共振扫描显示了白质异常.
- 在EIF2B5基因 (NM_001414.4:c.185A>T,p.Asp62Val) 中,WES发现了一种同卵性误解变异,此前仅在儿科患者中报告.
结论:
- c.185A>T EIF2B5变体可以在成年时表现出非经典症状,扩大VWMD的表型谱.
- EIF2B5是成年人发病的VWMD中最常发生突变的子单元,小脑缩,认知衰退和精神症状是常见的.
- 早期遗传检测对于VWMD的诊断,管理和咨询至关重要.
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