Boudewyns An, van den Ende Jenneke, Peeters Nils, Van Camp Guy, Hofkens-Van den Brandt Anouk, Van Schil Kristof, Wouters Kristien, Wuyts Wim
Department of Medical Genetics, Antwerp University Hospital and University of Antwerp.
Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital.
Otol Neurotol. 2023 Apr 1;44(4):360-366. doi: 10.1097/MAO.0000000000003841. Epub 2023 Feb 20.
To investigate the diagnostic yield of targeted next-generation sequencing using hearing loss panels and to identify patient-related factors that are associated with a definite genetic cause.
Retrospective chart review.
Tertiary referral center.
Children with congenital or late-onset, bilateral sensorineural hearing loss.
Diagnostic.
The number of patients with a definite genetic diagnosis.
We report on 238 patients with hearing loss: 130 were male and 108 were female. About 55% had congenital hearing loss. A genetic cause was identified in 94 of the patients (39.5%), with 72.3% of these showing nonsyndromic and 27.6% showing syndromic hearing loss. The diagnostic yield was highest among North African patients (66.7%). A multiple linear regression model shows that profound hearing loss, family history of hearing loss, congenital hearing loss, and North African ethnicity are significantly related to identifying a genetic cause.
Targeted next-generation sequencing using a panel of hearing loss genes identified a genetic diagnosis in almost 40% of children with bilateral sensorineural hearing loss. We describe the predictors of a genetic diagnosis, and this information may be used during genetic counseling.
研究使用听力损失基因检测板进行靶向二代测序的诊断率，并确定与明确遗传病因相关的患者相关因素。
回顾性病历审查。
三级转诊中心。
先天性或迟发性双侧感音神经性听力损失儿童。
诊断性。
明确基因诊断的患者数量。
我们报告了238例听力损失患者：130例为男性，108例为女性。约55%患有先天性听力损失。94例患者（39.5%）确定了遗传病因，其中72.3%为非综合征性听力损失，27.6%为综合征性听力损失。诊断率在北非患者中最高（66.7%）。多元线性回归模型显示，重度听力损失、听力损失家族史、先天性听力损失和北非种族与确定遗传病因显著相关。
使用听力损失基因检测板进行靶向二代测序在近40%的双侧感音神经性听力损失儿童中确定了基因诊断。我们描述了基因诊断的预测因素，这些信息可用于遗传咨询。
