Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Neural Plast. 2021 Jul 23;2021:6151973. doi: 10.1155/2021/6151973. eCollection 2021.
Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. Here, we enrolled 137 Chinese patients with congenital hearing loss to describe the molecular epidemiology by using 127 gene panel testing or 159 variant testing. Sixty-three deaf children received 127 gene panel testing, while seventy-four patients received 159 variant testing. By use of 127 gene panel testing, more mutant genes and variants were identified. The most frequent mutant genes were , , , , and . By analyzing the patients who received 127 gene panel testing, we found that 51 deaf children carried variants which were not included in 159 variant testing. Therefore, a large number of patients would be misdiagnosed if only 159 variant testing is used. This study highlights the advantage of 127 gene panel testing, and it suggests that broader genetic testing should be done to identify the genetic etiology of congenital hearing loss.
基因检测是探究先天性听力损失病因的金标准。在这里，我们招募了 137 名先天性听力损失的中国患者，通过使用 127 个基因panel 检测或 159 个变异检测来描述分子流行病学。63 名耳聋儿童接受了 127 个基因 panel 检测，而 74 名患者接受了 159 个变异检测。通过使用 127 个基因 panel 检测，发现了更多的突变基因和变异。最常见的突变基因是 、 、 、 和 。通过对接受 127 个基因 panel 检测的患者进行分析，我们发现 51 名耳聋儿童携带的变异不在 159 个变异检测范围内。因此，如果仅进行 159 个变异检测，会导致大量患者被误诊。本研究强调了 127 个基因 panel 检测的优势，并表明应该进行更广泛的基因检测，以确定先天性听力损失的遗传病因。
