由OTOF基因的结构变异引起的听觉神经病变,使用牛津纳米孔自适应采样识别
Takumi Kumai1, Shin-Ya Nishio2, Hideaki Moteki2
1Department of Otolaryngology-Head and Neck Surgery, Asahikawa Medical University, Asahikawa 078-8510, Japan.
Genes
|February 26, 2025
概括
这项研究报告了第一个由OTOF基因中的大量重复变异引起的听觉神经病变病例. 长读测序证实了重复和同时发生的单核酸变异,突出了听力损失中的OTOF基因变异.
科学领域:
- 遗传学 是一个遗传学.
- 听力学 听力学是指听力学.
- 分子生物学分子生物学
背景情况:
- *OTOF*基因与非综合征性递归感官神经听力损失和听力神经病变谱系障碍有关.
- 已经记录了OTOF基因的300多个变异,但复制增益变异仍然没有报告.
研究的目的:
- 在儿科患者中确定听力神经病变的遗传原因.
- 为了描述 *OTOF* 基因中的一种新的复制增益变异.
主要方法:
- 使用了短读和长读下一代测序 (NGS).
- 牛津纳米孔技术适应性采样被用于详细的变异分析.
- 使用长时间读取的NGS数据进行了 Haplotype 阶段化.
主要成果:
- 一名患有听觉神经病变的患者在*OTOF*基因 (外因子14-18号) 中发现了5254个基因复制和c.5385C>A单核酸变异.
- 复制和单核酸变异被证实是通过单核型分相通过*转*配置.
- 这代表了与听力神经病变相关的 * OTOF * 基因中大量重复变异的首次报告.
结论:
- 发现的新型变异,包括大量的*OTOF*基因重复,很可能是患者听力神经病变的致病原体.
- 牛津纳米孔技术适应性采样是有效的分析结构变异和确定类型分相.
- 这一案例扩大了与*OTOF*相关的听力障碍相关的遗传变异的范围.
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