关于脑儿童遗传变异的系统审查
Signe V Pedersen1, Jesper K Sørensen2,3, Rebecca Fabricius4
1Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Acta paediatrica (Oslo, Norway : 1992)
|December 24, 2025
概括
患有脑 (CP) 的儿童的基因检测显示诊断收益率为22.2%,在密码性CP中特别高. 这种遗传洞察力有助于CP患者的诊断,治疗和咨询.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 神经学 神经学
背景情况:
- 大脑 (CP) 是一种复杂的神经系统疾病,具有多种不同的病因.
- 了解CP的遗传基础对于准确的诊断和管理至关重要.
- 之前的CP遗传研究在范围和方法上有所不同.
研究的目的:
- 为儿童脑的遗传发现提供全面的概述.
- 描述遗传变异,亚型,并发症和神经成像相关性.
- 评估在脑中基因测试的临床实用性.
主要方法:
- 对Embase和Medline数据库的系统文献审查 (2000-2022年).
- 包括包括至少10名被诊断患有脑的人的研究.
- 对遗传变异,复制数变异 (CNV) 和相关表型的分析.
主要成果:
- 分析了19项研究,包括3707名CP患者.
- 基因检测的整体诊断收益率为22.2%,在密码化CP中达到55%.
- 在377个基因 (例如,CTNNB1,SPAST,ATL1) 和59个CNV中发现了变异,包括已知的微删除/重复综合征. 性和动性CP是常见的表型.
结论:
- 遗传评估对于诊断澄清,向治疗和CP的并发症监测至关重要.
- 基因检测为管理和预防提供了显著的好处,特别是在密码性病例中.
- 遗传发现与,神经成像模式和可治疗疾病相关,这强调了需要遗传咨询的必要性.
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