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一种新的PTPRQ c.3697del变异在人类和小鼠中引起自体主导的渐进性听力损失

Yaqi Zhou¹, Na Yin¹, Lingchao Ji¹

¹Department of Otorhinolaryngology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.

Clinical genetics

|October 22, 2024

概括

一种新的PTPRQ基因变异导致主导渐进性听力损失. 一个小鼠模型揭示了立体的失调和细胞路径的改变,为DFNA73听力损失机制提供了洞察力.

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:

PTPRQ对于内耳毛细胞立体细胞的发育至关重要.
自体递归的PTPRQ变体导致DFNB84A听力损失.
此前仅有一种自体主导的PTPRQ变异 (DFNA73) 已报告.

研究的目的:

识别与自身主导性听力损失相关的新型PTPRQ变异.
描述一种新的PTPRQ变异及其在听力损伤中的作用.
为DFNA73.3开发和验证一个鼠标模型.

主要方法:

针对下一代测序来识别中国汉族家族的变体.
通过CRISPR-Cas9基因编辑,创建了一个Ptprq敲入小鼠模型.
听觉功能测试,内耳形态分析和耳蛋白质组分析.

主要成果:

一种新的PTPRQ截断变体 (c.3697del) 与自体主导渐进性听力损失共分离.
异合的敲进小鼠显示轻度,渐进的高频听力损失,反映人类患者.
同性卵性敲进小鼠表现出严重的听力损失,无组织的立体和关键细胞通路中的基因表达改变.

结论:

鉴定到的 PTPRQ 变体是自体主导性听力损失 (DFNA73) 的致病原体.
该Ptprq敲入小鼠模型准确地重复了人类DFNA73表型.
这项研究为研究DFNA73的分子机制和潜在的治疗点提供了有价值的模型.

关键词:

这是一个PTPRQQ.DFNA73 DFNA73 是一个自体主导的自体主导.听力损失听力损失是什么鼠标模型鼠标模型鼠标模型新的引起疾病的变种.下一代测序是下一代的测序.

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