在患有STRC突变的儿童中,神经感官听力损失的自然史
Kenny H Chan1,2, Emily E Nightengale3, Setareh Ekhteraei4
1Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado, USA.
The Laryngoscope
|February 2, 2026
概括
STRC基因的突变是儿童听力损失的常见原因. 与之前的研究结果相反,这项研究发现,STRC相关的听力损失可以进展,有时是显著的,需要长期监测.
科学领域:
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 听力学 听力学是指听力学.
背景情况:
- 自体逆性非综合征性听力损失 (AR-NSHL) 经常是由GJB2和STRC基因的突变引起的.
- STRC突变通常与轻度至中度的感觉神经听力损失 (SNHL) 和最小的进展有关.
- 机构经验表明,STRC相关听力损失的潜在进展,需要进一步调查.
研究的目的:
- 审查与STRC基因突变相关的听力损失的临床特征和进展模式.
- 在接受基因检测的儿科队列中评估STRC突变的频率.
- 将机构发现与有关STRC相关听力损失的现有文献进行比较.
主要方法:
- 在一家三级儿童医院进行了10年后期的图表审查.
- 在OtoSCOPE®小组中确定了具有积极STRC基因发现的受试者.
- 分析了听力学数据,包括听力进展和突变亚型.
主要成果:
- 在354名受试者中,STRC是第二常见的基因突变 (16.6%).
- 大多数STRC病例呈现轻度至中度听力损失 (88.5%).
- 在STRC队列中的50%观察到听力进展,年平均进展率为1.1dB;两个病例需要考虑耳植入.
结论:
- STRC是儿童NSHL的一个重要原因,特别是轻度至中度的SNHL.
- 与之前的报道相反,STRC相关的听力损失在这个队列中的50%的病例中表现出进展.
- 对于具有STRC突变的个体,建议进行长期听力测量监测和标准化基因组报告.
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