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用于儿科发病的神经肌肉疾病的下一代测序,这些神经肌肉疾病没有通过传统的诊断方法得到解决

Pimchanok Kulsirichawaroj^1,2,3, Mongkol Chanvanichtrakool^1,3, Pish Wattanadilokchatkun²

¹Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Pediatric research

|June 10, 2025

概括

下一代测序 (NGS) 为东南亚的儿科神经肌肉疾病 (NMDs) 提供了高的诊断产量. 这种方法通过准确的诊断和个性化的治疗策略显著改善了患者的护理.

科学领域:

遗传学是一个遗传学.
神经学神经学
罕见疾病罕见疾病

背景情况:

神经肌肉疾病 (NMDs) 是一种罕见的,影响周围神经系统的渐进性疾病,导致衰弱和全身并发症.
对NMDs的遗传诊断正在进步,但东南亚的数据很少,可能缺少祖先变异和多种突变.
来自东南亚的有限数据强调了对NMD进行区域遗传研究的必要性.

研究的目的:

评估基因组测试和对泰国儿科发病的NMDs的外体序列测试的诊断产量和临床影响.
评估下一代测序 (NGS) 在东南亚队列中的实用性.
探索这个研究不足的人群中突变光谱的潜在差异.

主要方法:

针对性基因小组测试和外体序列测试用于疑似遗传性NMDs的儿科患者.
用全面的NGS方法进一步评估了单基因测试阴性患者.
遗传发现被分为积极的,可能的,可能的或负面的分类.

主要成果:

在135名儿科NMD患者中,总体诊断收益率为69.6%.
具体收益率包括遗传性肌肉病症的70.7%,遗传性神经病症的63.3%,以及先天性肌肉综合征的90.0%.
在87.2%的病例中,遗传诊断显著影响了临床护理,指导诊断,治疗,监测和计划生育.

结论:

下一代测序 (NGS) 显著提高了儿科NMD的诊断准确性和临床管理.
在疑似遗传性NMD的情况下,建议将NGS纳入诊断工作流程,以优化患者护理.
这些发现表明,东南亚人群中可能存在独特的突变光谱,需要进一步调查.

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