Auditory neuropathy spectrum disorder (ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in Chinese ANSD patients is still unknown which precludes the effective management of this disease. Here, we investigated the contribution of OTOF mutations to congenital ANSD patients in China. In all, 37 infants and young Children with ANSD were screened for all the exons of OTOF gene, of them 34 patients had no neonatal risk factors who were considered as congenital ANSD. The clinical manifestation and audiometric features were also investigated and compared in patients with and without OTOF mutations. In all, 14 of these subjects were shown to carry two or three mutant alleles of OTOF with the high frequency of 41.2% in congenital ANSD patients. In total, 15 novel pathogenic mutations and 10 reported mutations were identified. Our results confirmed that mutations in OTOF gene were a major cause of congenital ANSD in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD.

Review question / Objective: Formal screening of search results against eligibility criteria. Rationale: The purpose of this study was to conduct a detailed and systematic review of the studies on the relationship between SNP and NIHL susceptibility through a large number of relevant literature searches, and to conduct a meta-analysis of SNPS to resolve these contradictory results, and to find out the genes or SNPS associated with NIHL susceptibility, so as to establish a practical and reliable prediction system. Conditionbeing studied: The different susceptibility of individuals to the same INPLASY 1

BackgroundNoise-induced hearing loss (NIHL) has always been a global public health problem, which is related to noise exposure and genetic factors. Many researchers have tried to identify the polymorphisms that cause different individuals' susceptibility to NIHL. We conducted a meta-analysis of the most frequently studied polymorphisms to identify those genes that may be associated with NIHL and may provide value in risk prevention.MethodsPubMed, China National Knowledge Infrastructure (CNKI) database, Embase, Wang Fang, Web of Science and Cochrane library were searched, and qualified studies on the correlation between polymorphism and NIHL susceptibility were screened, and then polymorphisms cited in at least three studies were selected for meta-analysis. Fixed- or random-effects models were used to calculate odds ratios and 95% confidence intervals. Statistical I2 tests and sensitivity analyses were used to detect interstudy heterogeneity and test the statistical stability of overall estimates, respectively. Egger's tests were applied to detect publication bias among included studies. All of the above analyses were performed using stata 17.0.Results64 genes were initially selected and introduced in 74 papers. Among them, 10 genes (and 25 polymorphisms) have been reported in more than 3 papers. Twenty five polymorphisms participated in the meta-analysis. Of the 25 polymorphisms, only 5 were significantly associated with the risk of AR: rs611419 (GRHL2) polymorphism and rs3735715 polymorphism (GRHL2), rs208679 polymorphism (CAT), rs3813346 polymorphism (EYA4) were significantly associated with the susceptibility of NIHL, rs2227956 polymorphism (HSP70) was significantly associated with the susceptibility of white population NIHL, and the remaining 20 gene polymorphisms were not significantly associated with NIHL.ConclusionWe found polymorphisms that are valuable for the prevention of NIHL and polymorphisms that are not related to NIHL. This is the first step to establish an effective risk prediction system for the population, especially for high-risk groups, which may help us better identify and prevent the occurrence of NIHL. In addition, our research results contribute to the in-depth exploration of NIHL.Systematic review registrationhttps://inplasy.com/inplasy-2023-6-0003/, identifier INPLASY202360003.