Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

ABSTRACT:

Purpose

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.

Methods

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.

Results

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 d

SUBMITTER: Xiang J 

PROVIDER: S-EPMC9235092 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature