Molecular etiology study of hearing loss in 13 Chinese Han families.

Hearing loss affecting about 2/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss. We recruited 13 Chinese Han deafness families who tested negative for , and mitochondrial 12S rRNA. The probands of each family were performed whole-exome sequencing (WES) or targeted next-generation sequencing (NGS) for known deafness genes to study for pathogenic causes. We found four novel mutations of , one novel mutation of , one novel mutation of , one novel mutation of , and one novel mutation of , one novel CNV of , and one novel CNV of . Hearing loss is a highly hereditary and heterogeneous disease. The results in the limited samples of this study show that Usher and Waardenburg syndrome-related genes account for a major proportion are strongly associated with Chinese Han hearing loss patients negative for , and mitochondrial 12S rRNA, followed by resulting in mild to moderate deafness.