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寡原效应与自体主导性聋15的临床异质性有关

Jianyan Pan^1,2, Hua Teng¹, Fang Liu¹

¹Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China.

Scientific reports

|January 14, 2025

概括

在POU4F3基因的新型突变导致自体主导聋-15. 在STRC,GJB2和CDC14A基因中的额外变异可能会改变听力损失的进展,解释临床异质性.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
耳鼻喉科耳鼻喉科耳鼻喉科

背景情况:

自体主导性耳聋-15 (DFNA15) 呈现出显著的临床异质性,甚至在家庭内.
在POU4F3突变中这种变异性的遗传基础仍然不清楚.

研究的目的:

为了调查一个中国家庭的变性听力损失的遗传原因,DFNA15.
为了识别POU4F3基因中的新突变,并探索潜在的基因修饰剂.

主要方法:

整体外基因组测序以识别突变.
亚细胞局部化测试以确认病原性.
定量PCR,西部斑点,化酶和ChIP-seq试验用于分析基因调节.

主要成果:

发现了一种新的POU4F3突变 (c.706C>T,p.L236F),改变了POU4F3的局部化.
两名患有严重表型的患者携带了STRC,GJB2和CDC14A的额外致病变体.
POU4F3被证明可以直接调节STRC,GJB2和CDC14A,它们也与POU4F3.3结合.

结论:

这项研究扩大了POU4F3的突变谱,并证实了一种新的致病突变.
STRC,GJB2和CDC14A被确定为POU4F3.3的新目标.
STRC,GJB2和CDC14A的变异可能充当基因修饰剂,有助于DFNA15.15中的渐进性听力损失表型.

关键词:

在 POU4F3F3 中.自体主导性聋发症自体主导性聋发症临床异质性临床异质性一个新的突变.有寡原效应的效应.

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