听力损失是由于KCNQ4基因的新型变异造成的
Rocío González-Aguado1, Julia Fernández-Enseñat1, Esther Onecha2
1Department of Otolaryngology, Hospital Universitario Marqués de Valdecilla, Santander, Cantabria, Spain.
概括
在西班牙北部,KCNQ4基因变异是感神经听力损失的罕见原因,在不到2%的患者中发现. 鉴定到的变异,虽然新,与典型的渐进性听力损失保持一致,一些患者从助听器或耳植入物中受益.
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
- 分子生物学分子生物学
背景情况:
- KCNQ4基因变异与孤立的感觉神经听力损失 (DFNA2A) 有关.
- 了解听力损失的遗传基础对于诊断和治疗至关重要.
- 源不明的感觉神经听力损失是一个诊断挑战.
研究的目的:
- 在西班牙北部,确定KCNQ4基因变异在无法解释的感觉神经神经听力损失患者中的频率.
- 描述与KCNQ4变异相关的临床表现.
- 在KCNQ4基因中识别致病性,可能致病性和不确定的变异.
主要方法:
- 在6年内进行的前性观察研究.
- 包括患有未知病因的感觉神经听力损失的患者.
- 使用全面的基因小组进行下一代测序.
主要成果:
- 在370名患者中,有7名患者 (1.89%) 具有致病或可能致病的KCNQ4变体.
- 发现了三种新的变种 (c.777_778delinsCC,c.626T>G,c.778G>C).
- 患者呈现出渐进的,双边的,高频感觉神经听力损失;没有报告的.
- 一名患者患有意义不明的变异 (c.419T>C).
结论:
- 在被研究的人群中,KCNQ4变异很少出现 (<2%).
- 已识别的KCNQ4变异与已知的渐进性神经感官听力损失的表型一致.
- 一些患者可能会从助听器或耳植入器中受益.
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