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<p>Abstract</p> <p>Background</p> <p>Mutations in <it>OTOF </it>gene, encoding otoferlin, cause DFNB9 deafness and non-syndromic auditory neuropathy (AN). The aim of this study is to identify <it>OTOF </it>mutations in Chinese patients with non-syndromic auditory neuropathy.</p> <p>Methods</p> <p>73 unrelated Chinese Han patients with AN, including one case of temperature sensitive non-syndromic auditory neuropathy (TS-NSRAN) and 92 ethnicity-matched controls with normal hearing were screened. Forty-five pairs of PCR primers were designed to amplify all of the exons and their flanking regions of the <it>OTOF </it>gene. The PCR products were sequenced and analyzed for mutation identification.</p> <p>Results</p> <p>Five novel possibly pathogenic variants (c.1740delC, c.2975_2978delAG, c.1194T>A, c.1780G>A, c.4819C > T) were identified in the group of 73 AN patients, in which two novel mutant alleles (c.2975_2978delAG + c.4819C > T) were identified in one Chinese TS-NSRAN case. Besides, 10 non-pathogenic variants of the <it>OTOF </it>gene were found in AN patients and controls.</p> <p>Conclusions</p> <p>Screening revealed that mutations in the <it>OTOF </it>gene account for AN in 4 of 73(5.5%) sporadic AN patients, which shows a lower genetic load of that gene in contrast to the previous studies based on other populations. Notably, we found two novel mutant alleles related to temperature sensitive non-syndromic auditory neuropathy. This mutation screening study further confirms that the <it>OTOF </it>gene contributes to ANs and to TS-NSRAN.</p>