蒙古患者听力损失的遗传基础：下一代测序研究。
Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study.
机构信息
Department of Epidemiology and Biostatistics, School of Public Health, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia.
Healthy Twin Registry of Mongolia, Ulaanbaatar 14210, Mongolia.
出版信息
Genes (Basel). 2024 Sep 20;15(9):1227. doi: 10.3390/genes15091227.
BACKGROUND/OBJECTIVE: The genetic landscape of sensorineural hearing impairment (SNHI) varies across populations. In Mongolia, previous studies have shown a lower prevalence of mutations and a higher frequency of variants in other deafness-related genes. This study aimed to investigate the genetic variants associated with idiopathic SNHI in Mongolian patients.
METHODS
We utilized the next-generation sequencing for investigating the causative mutations in 99 Mongolian patients with SNHI.
RESULTS
We identified pathogenic variants in 53 of the 99 SNHI patients (54%), with being the most frequently mutated gene. The c.919-2A>G variant in was the most prevalent, accounting for 46.2% of the mutant alleles. In addition, we identified 19 other known and 21 novel mutations in a total of 21 SNHI genes in autosomal recessive or dominant inheritance patterns.
CONCLUSIONS
Our findings expand the understanding of the genetic landscape of SNHI in Mongolia and highlight the importance of considering population-specific variations in genetic testing and counseling for SNHI.
背景/目的：感音神经性听力损失（SNHI）的遗传特征在不同人群中存在差异。在蒙古，先前的研究表明突变的患病率较低，而其他与耳聋相关基因的变异频率较高。本研究旨在调查与蒙古患者特发性 SNHI 相关的遗传变异。
方法
我们利用下一代测序技术对 99 名蒙古 SNHI 患者的致病突变进行了研究。
结果
我们在 99 名 SNHI 患者中的 53 名（54%）中发现了致病性变异，其中 是最常突变的基因。在 中，c.919-2A>G 变异最为常见，占突变等位基因的 46.2%。此外，我们还在总共 21 个常染色体隐性或显性遗传模式的 SNHI 基因中发现了 19 个其他已知和 21 个新突变。
结论
我们的研究结果扩展了对蒙古 SNHI 遗传特征的认识，并强调了在 SNHI 的基因检测和咨询中考虑特定人群遗传变异的重要性。
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