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德诺沃SLC12A2变体呈现为先天性听力损失与静脉反射症

Katja Ludin¹, Anna M Kopps¹, Celine Richard^2,3

¹Genetica, Genetic Consultations and Laboratory, Zürich, Switzerland.

American journal of medical genetics. Part A

|June 12, 2025

概括

SLC12A2基因的变异与听力损失和前庭功能障碍有关. 在SLC12A2中失去21号外子会导致耳受限的表型,强调在听力损失病例中需要广泛的遗传测试.

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
分子生物学分子生物学

背景情况:

自2016年以来,SLC12A2的变体与各种人类疾病有关.
这些包括基尔奎斯特综合征 (发育迟缓,神经感官听力损失) 和非综合征性聋 (DFNA78).
SLC12A2编码了一种Na+K+2Cl-共载体 (NKCC),对内耳功能和内淋巴平衡至关重要.

研究的目的:

为了研究SLC12A2变体在带有前置性耳的深度先天性听力损失中的作用.
分析SLC12A2中新型拼接部位变异对内耳功能的影响.
为了解非综合征性听力损失的遗传基础做出贡献.

主要方法:

一个患有先天性听力损失和前庭性屈折症的病人的病例报告.
对SLC12A2的基因分析,包括cDNA分析以确认外因子跳转.
与已知的SLC12A2相关疾病的表型相关性.

主要成果:

在SLC12A2中确定了一个de novo拼接供体位变体 (c.2977+4_2977+7del).
这种变异导致了21号外体的内框架跳转,由cDNA分析证实.
这位患者呈现出严重的先天性听力损失和前置体,与耳受限的表型一致.

结论:

在SLC12A2中失去21号外显子会导致耳受限的表型,导致听力损失和前置体反.
这种情况扩大了与SLC12A2相关的疾病的范围.
强调对患有非综合征性听力损失和前置性疏松症的患者进行综合性遗传测序的重要性.

关键词:

基尔奎斯特综合征 (Kilquist综合征) 是一种的内分淋巴细胞.离子输送器离子输送器感应神经神经听力损失前置性的反弹性是灵活的前体功能障碍是什么?前体功能障碍是什么?

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