与儿童和青少年的运动语言表型相关的单基因障碍 接受临床外体序列测序的儿童和青少年
Marissa W Mitchel1, Matthew Oetjens1, Alexander S F Berry1
1Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA.
概括
基因测试在超过25%的儿科运动语音障碍 (MSD) 病例中发现了致病变体,揭示了新的相关基因. 这一发现支持单一性MSD原因的儿童早期语音治疗.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 语言病理学 语音病理学
背景情况:
- 关于儿科运动语言障碍 (MSD) 的遗传原因的先前研究受到小样本大小和狭窄的重点限制.
- 先前的遗传研究中,阿普拉克西亚是主要的焦点,其他MSD研究不足.
研究的目的:
- 在大型儿科队列中识别与MSD相关的致病基因组变异.
- 利用来自参考人群的外基因组测序 (ES) 数据来扩大对MSD遗传学的理解.
主要方法:
- 确定了2012年至2022年间接受临床外基因组测序 (ES) 的MSD的儿科患者.
- 病原性/可能病原性 (P/LP) 发现被评估因果关系,按性别和神经发育并发症分层.
- 基因负担测试比较了MSD病例中的P/LP变异率与对照队列.
主要成果:
- 在MSD队列中,诊断产量达到26.3% (527/2004年),女性和患有并发症的人群的比率更高.
- 在262个基因中确定了致病性/可能致病性 (P/LP) 序列变异.
- 基因分析涉及30个基因,其中SETBP1和ADCY5在严格的统计纠正中幸存下来.
结论:
- 超过25%的儿科MSD患者在262个基因中携带P/LP变体,其中许多是MSD的新型.
- 这些发现表明,在被诊断为单一性MSD的儿童中,早期的有针对性的语音疗法的潜力.
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