Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss

Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of deaf probands from six unrelated Chinese families. After excluding pathogenic/likely pathogenic in most common genes, GJB2 and SLC26A4, 12 prelingual deafness autosomal recessive inheritance were evaluated by whole-exome sequencing (WES). All candidate verified Sanger all patients their parents. Biallelic patients. Among these families, 10 potentially causative variants, including 3 reported 7 novel different deafness-associated (DFNB) (MYO15A, COL11A2, CDH23) identified. These are thought be or likely for theirs predicted damage function upon protein while cosegregated phenotype. MYO15A frequent 7/10 ones. Next-generation (NGS) approach becomes more cost-effective efficient when analyzing large-scale compared conventional polymerase chain reaction-based sequencing, which is often used screen deafness-related genes. current findings further extend spectrum population, positive significance counseling.