Genetic Analysis of the Gene in Chinese Patients With Non-Syndromic Hearing Loss.

Non-syndromic hearing loss (NSHL) is a common neurosensory disease with an extreme genetic heterogeneity which has been linked to variants in over 120 genes. The gene (DFNB77), encoding lipoxygenase homology domain 1, is a rare hearing loss gene found in several populations. To evaluate the importance of variants in Chinese patients with NSHL, we performed genetic analysis on in 2,901 sporadic Chinese patients to identify the aspect and frequency of causative variants. Next-generation sequencing using a custom gene panel of HL was conducted on 2,641 unrelated patients and whole-exome sequencing on the remaining 260 patients. A total of 33 likely causative variants were identified in 21 patients, including 20 novel variants and 13 previously reported pathogenic variants. Each of the 20 novel variants was evaluated according to ACMG criteria. These findings showed that causative variants in were found in about 0.72% (21/2,901) of Chinese NSHL patients. This study is by far the largest number of novel variants identified in this gene expanding the range of pathogenic variants in , and suggests that variants in this gene occur relatively commonly in Chinese NSHL patients. This extensive investigation of in Chinese NSHL patients proposed six recurrent variants. These findings may assist in both molecular diagnosis and genetic counseling.