在SORD基因中发生的一种新奇突变与远端遗传运动神经病变相关
Xiaoqin Yuan1, Shanshan Zhang1, Huifang Shang2
1Department of Neurology, School of Medicine, Mianyang Central Hospital, University of Electronic Science and Technology of China, Mianyang, Sichuan, 621000, China.
BMC medical genomics
|June 24, 2024
概括
在患有远端遗传运动神经病变 (dHMN) 的患者中发现了一种新的SORD基因变异,扩大了这种疾病已知的遗传原因. 这一发现强调了对未被诊断的dHMN病例进行基因检测的重要性.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 远端遗传性运动神经病变 (dHMN) 是一组遗传性疾病,导致下部运动神经元的逐渐退化.
- 超过30个基因与dHMN有关,但70-80%的患者缺乏遗传诊断.
- 识别新的遗传变异对于理解dHMN异质性至关重要.
研究的目的:
- 在患有不明原因症状的患者中确定dHMN的遗传原因.
- 为了表征SORD基因中的新型变异.
- 扩大已知的SORD相关遗传神经病变的范围.
主要方法:
- 在患有dHMN的患者身上进行了整体外体序列 (WES) 测序.
- 桑格测序用于验证患者和家长中确定的变异.
- 在基分析预测了新型变种的致病性.
- 对SORD变种进行了全面的文献审查.
主要成果:
- 一个新型的同卵性SORD变体c.361G>C (p.Ala121Pro) 在一个中国患者身上被发现.
- 这种变种位于保护区,被归类为"可能致病" (ACMG指南).
- 这是SORD相关遗传神经病变的第二个报告的同卵性变异,扩大已知的突变超出了常见的c.757delG变异.
结论:
- 在一名患有dHMN的中国患者身上发现了一种新型的同卵性SORD变体 (c.361G>C).
- 这一发现扩大了SORD相关遗传神经病变的突变谱.
- 对于未被诊断的遗传性神经病变患者,建议对SORD变异进行查.
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