AUTHOR=Sun Lianhua , Lin Zhengyu , Wang Xiaowen , Shen Jiali , Li Yue , Huang Yuyu , Yang Jun 

TITLE=Molecular etiology study of hearing loss in 13 Chinese Han families

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1048218

DOI=10.3389/fneur.2022.1048218

ISSN=1664-2295

ABSTRACT=<p>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 <italic>GJB2, SLC26A4</italic>, 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 <italic>CDH23</italic>, one novel mutation of <italic>MYO15A</italic>, one novel mutation of <italic>TMC1</italic>, one novel mutation of <italic>PAX3</italic>, and one novel mutation of <italic>ADGRV1</italic>, one novel CNV of <italic>ADGRV1</italic>, and one novel CNV of <italic>STRC</italic>. 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 <italic>GJB2, SLC26A4</italic>, and mitochondrial 12S rRNA, followed by <italic>STRC</italic> resulting in mild to moderate deafness.</p>