Lee Nam K, Uhler Kristin M, Yoon Patricia J, Santos-Cortez Regie Lyn P
Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
Biomedicines. 2024 Jun 27;12(7):1427. doi: 10.3390/biomedicines12071427.
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 , , and were most likely to be causal of hearing loss. Novel pathogenic variants in the and 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.
遗传因素对先天性听力损失有显著影响，非综合征性病例更为普遍且具有遗传异质性。目前，已有150个基因与非综合征性听力损失相关，它们的鉴定增进了我们对听觉生理学和潜在治疗靶点的理解。听力损失基因检测板可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且成本更低。目前，以相对较低成本提供的基因检测板检测提供给面临经济障碍的患者。在本研究中，收集了6例接受基因检测板检测的儿科患者的临床和听力数据。已知的、和中的致病变异最有可能是听力损失的病因。还鉴定出了和基因中的新型致病变异。在具有不同致病变异的个体中观察到了可变的听力表型和遗传模式。这些变异的鉴定有助于不断扩大关于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。
