College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China.
BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.
BMC Med Genomics. 2022 Jun 27;15(1):142. doi: 10.1186/s12920-022-01293-x.
Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated.
From 2018-2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing, STRC/OTOA copy number variation analysis, and exome sequencing, were hierarchically offered. Clinical follow-up and examinations were performed.
A total of 80 pediatric patients who initially presented isolated hearing loss were considered as nonsyndromic hearing loss and enrolled in this study. The definitive diagnosis yield was 66% (53/80) and the likely diagnosis yield was 8% (6/80) through comprehensive genetic testing. With the aid of genetic testing and further clinical follow-up and examinations, the clinical diagnoses and medical management were altered in eleven patients (19%, 11/59); five were syndromic hearing loss; six were nonsyndromic hearing loss mimics.
Syndromic hearing loss and nonsyndromic hearing loss mimics are common in pediatric patients who initially present with isolated hearing loss. The comprehensive genetic testing provides not only a high diagnostic yield but also valuable information for clinicians to uncover subclinical or pre-symptomatic phenotypes, which allows early diagnosis of SHL, and leads to precise genetic counseling and changes the medical management.
基因检测广泛用于诊断遗传性听力损失患者。除了提供遗传病因学信息外，基因检测在儿科听力损失患者中的益处尚未得到充分研究。
本研究纳入了 2018 年至 2020 年间初次表现为孤立性听力损失的儿科患者。依次进行了包括 GJB2/SLC26A4 多重扩增子测序、STRC/OTOA 拷贝数变异分析和外显子组测序在内的综合基因检测，并进行了临床随访和检查。
共有 80 名初次表现为孤立性听力损失的儿科患者被认为是非综合征性听力损失，并纳入本研究。通过综合基因检测，明确诊断率为 66%（53/80），可能诊断率为 8%（6/80）。借助基因检测和进一步的临床随访和检查，11 名患者（19%，11/59）的临床诊断和医疗管理发生了改变：5 名患者为综合征性听力损失，6 名患者为非综合征性听力损失类似症。
在初次表现为孤立性听力损失的儿科患者中，综合征性听力损失和非综合征性听力损失类似症较为常见。综合基因检测不仅提供了高诊断率，还为临床医生提供了有价值的信息，以发现亚临床或症状前表型，从而实现早期诊断 SHL，并进行精确的遗传咨询和改变医疗管理。
