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通过长读序列测序检测和描述NOTCH2NLC中罕见的变异,导致错误的负分子诊断
Xiaosheng Zheng1, Nan Jin1, Peng Liu2
1Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
European journal of human genetics : EJHG
|June 13, 2025
概括
神经内核包容性疾病 (NIID) 的诊断可能具有挑战性. 这项研究发现罕见的NOTCH2NLC变种导致遗传测试的假阴性,突出了先进的测序方法的需要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 神经内核包容性疾病 (NIID) 是一种罕见的神经退行性疾病.
- 在NOTCH2NLC基因中GGC重复扩张是NIID诊断的主要分子标记物.
- 在一些NIID病例中,标准基因检测可能会产生假阴性结果.
研究的目的:
- 调查一个NIID患者的确诊,但对NOTCH2NLC GGC重复扩张的标准基因检测是负面的.
- 为了确定错误阴性结果的潜在遗传原因.
- 描述NOTCH2NLC基因区域中罕见变异的流行率和诊断影响.
主要方法:
- 整个基因组长读测序 (LRS) 用于分析NOTCH2NLC基因及其周围区域.
- 对NIID患者进行了基因分析,并扩展到501名基本震患者和361名LRS数据集.
- 进行了对测序数据的比较分析,以确定致病变体并评估它们的罕见性.
主要成果:
- 长读测序确定了NIID患者NOTCH2NLC中的GGC重复扩张.
- 发现三种以前未被检测到的上游变体干扰了标准基因检测,导致了假阴性结果.
- 这些已识别的变种,包括GGC重复扩张,在一般人群和基本震队伍中发现很少见.
结论:
- 罕见的NOTCH2NLC变种可以在NIID患者中引起假阴性分子诊断.
- 全基因组长读测序对于全面的基因型定型和复杂病例的准确NIID诊断至关重要.
- 这些发现需要对NIID的诊断策略进行改进,包括先进的测序技术.
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