Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

摘要

FIGURE 1. Hearing threshold dynamics of PTA test across analyzed frequencies (0.25–4 kHz). The prominent drop in lower frequency range was detected in both patients – red and blue lines in (A) (1. sibling) and (B) (2. sibling) with hearing most severely affected at higher frequencies, thus forming a characteristic PTA curve for ILRD1-dependent hearing loss. The CI surgery significantly improved the hearing across whole frequency range (green line).