Temperature Sensitive Auditory Neuropathy

Publication date: Available online 15 January 2016
Source:Hearing Research
Author(s): Qiujing Zhang, Lan Lan, Wei Shi, Lan Yu, Lin-yi Xie, Fen Xiong, Cui Zhao, Na Li, Zifang Yin, Liang Zong, Jing Guan, Dayong Wang, Wei Sun, Qiuju Wang
Temperature sensitive auditory neuropathy is a very rare and puzzling disorder. In the present study, we reported three unrelated 2 to 6 year-old children who were diagnosed as auditory neuropathy patients who complained of severe hearing loss when they had fever. Their hearing thresholds varied from the morning to the afternoon. Two of these patients’ hearing improved with age, and one patient received positive results from cochlear implant. Genetic analysis revealed that these three patients had otoferlin (OTOF) homozygous or compound heterozygous mutations with the genotypes c.2975_2978delAG/c.4819C>T, c.4819C>T/c.4819C>T, or c.2382_2383delC/c.1621G>A, respectively. Our study suggests that these gene mutations may be the cause of temperature sensitive auditory neuropathy. The long term follow up results suggest that the hearing loss in this type of auditory neuropathy may recover with age.



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