听力损失是由于OTOF基因变异的次要原因
Carmelo Morales-Angulo1, Jaime Gallo-Terán2, Rocío González-Aguado3
1Department of Otolaryngology and Head and Neck Surgery. Marqués de Valdecilla University Hospital, Santander, Spain; Cell Cycle, Stem Cell Fate and Cancer Laboratory, Institute for Research Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain; Faculty of Medicine. University of Cantabria, Santander, Spain.
在OTOF基因的遗传变异导致自体相逆性听力损失. 像p.Gln829*这样的同卵性致病变体会导致严重的听力损失和听力神经病变,在耳植入后的结果很好.
科学领域:
- 遗传学 遗传学 是一个
- 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:
- 在OTOF基因中的遗传变异是非综合征性听力损失的已知原因.
- 自体逆向遗传模式与OTOF基因突变有关.
- 了解临床谱和治疗结果对于患者管理至关重要.
研究的目的:
- 为了评估OTOF基因中双样致病变体的患者的临床特征.
- 评估这些患者的听力损失和治疗反应的演变.
- 为了确定p.Gln829*变体在患有语言前听力损失的队列中的频率和影响.
主要方法:
- 分析了124名患有语言前听力损失的患者队列.
- 基因分析确定了OTOF基因变异及其频率.
- 收集和审查了临床数据和治疗结果,包括耳植入物.
主要成果:
- 同卵性p.Gln829* OTOF变体在2.4%的患者中被发现.
- 受影响的个体呈现出严重/深刻的双边感觉神经听力损失和听力神经病变谱系障碍.
- 在大多数接受治疗的个体中,耳植入产生了良好的功能结果.
- 在OTOF中异体变异通常不会导致显著的听力损失.
结论:
- 虽然 p.Gln829* OTOF 变种很少见,但它会导致严重/深刻的双边语言前感官神经听力损失.
- 听力神经病是受影响个体的一个关键特征.
- 耳植入器是这种OTOF变体引起的听力损失的有效治疗方法.
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