Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss

摘要

Objective: Autosomal recessive non-syndromic hearing loss (DFNB) is a genetically heterogeneous disorder. So far, 55 pathogenic genes have been identified. In this study, we aim to characterize the clinical feature and the genetic cause of a Chinese DFNB family.