PDF(Pubmed)
Abstract：
Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has improved our understanding of auditory physiology and potential therapeutic targets. Hearing loss gene panels offer comprehensive genetic testing for hereditary hearing loss, and advancements in sequencing technology have made genetic testing more accessible and affordable. Currently, genetic panel tests available at a relatively lower cost are offered to patients who face financial barriers. In this study, clinical and audiometric data were collected from six pediatric patients who underwent genetic panel testing. Known pathogenic variants in MYO15A, GJB2, and USH2A were most likely to be causal of hearing loss. Novel pathogenic variants in the MYO7A and TECTA genes were also identified. Variable hearing phenotypes and inheritance patterns were observed amongst individuals with different pathogenic variants. The identification of these variants contributes to the continually expanding knowledge base on genetic hearing loss and lays the groundwork for personalized treatment options in the future.
摘要：
遗传因素对先天性听力损失有重要贡献，非综合征病例更为普遍和遗传异质性。目前,150个基因与非综合征性听力损失有关，他们的识别提高了我们对听觉生理学和潜在治疗目标的理解。听力损失基因小组为遗传性听力损失提供全面的基因检测，测序技术的进步使基因检测更容易获得和负担得起。目前,向面临经济障碍的患者提供相对较低成本的基因小组测试。在这项研究中,我们收集了6例接受基因小组检测的儿科患者的临床和听力数据.MYO15A中已知的致病变体，GJB2和USH2A最有可能是听力损失的原因。还鉴定了MYO7A和TECTA基因中的新型致病变体。在具有不同致病变异的个体中观察到可变的听力表型和遗传模式。这些变异的识别有助于不断扩大遗传性听力损失的知识库，并为未来的个性化治疗方案奠定基础。
