155名患有发育性和性脑病变的儿童的综合遗传诊断和治疗前景
R van Heurck1, E B Hammar1, D Ville2
1Genetic Medicine Division, Diagnostics Department, University Hospitals of Geneva, Switzerland.
概括
基因检测确定了68%患有发育性和性脑病变 (DEE) 的儿童的原因. 在1岁之前的早期诊断显著改善了这些罕见的神经疾病的遗传变异检测率.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 发育性和性脑病变 (DEE) 是一种严重的神经疾病,具有早期发作的和发育迟缓.
- 遗传因素越来越被认为是DEE病因的关键因素.
- 准确的遗传诊断对于预后,治疗和遗传咨询至关重要.
研究的目的:
- 在一组患有DEE的儿童中调查基因测试的诊断产量.
- 确定DEE的常见和罕见遗传原因.
- 评估针对性治疗的潜力,例如反感性寡核酸 (ASO).
主要方法:
- 对155名被诊断患有DEE的儿童进行了回顾性队列研究.
- 从三个大学医院收集的临床数据.
- 基因分析包括阵列比较基因组杂交 (阵列-CGH) 和基于外体的基因面板.
主要成果:
- 在105名受试者中 (68%) 实现了基因诊断.
- 在1岁之前出现症状的儿童中,73%的病例中发现了致病变体.
- 观察到高遗传异质性,涉及40个基因,其中SCN1A是最普遍的.
- 近一半的鉴定变异在理论上可以接受ASO的个性化治疗.
结论:
- 基因调查在诊断DEE方面非常有效,特别是在婴儿中.
- 分子诊断有助于治疗调整和遗传咨询.
- 这些发现支持对早期发作的神经系统疾病进行基因测试的重要性日益增加,并突出了潜在的治疗途径.
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