title: Temperature sensitive auditory neuropathy.
abstract: 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.
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: zqj99@163.com.
authors.forename: Qiujing
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: ll-301@263.net.
authors.forename: Lan
authors.initials: L
authors.lastname: Lan
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: sw0215@sohu.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Shi
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: anna_lan@126.com.
authors.forename: Lan
authors.initials: L
authors.lastname: Yu
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: xielinyi1234@126.com.
authors.forename: Lin-Yi
authors.initials: LY
authors.lastname: Xie
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: 870505713@qq.com.
authors.forename: Fen
authors.initials: F
authors.lastname: Xiong
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: zhaocui619@126.com.
authors.forename: Cui
authors.initials: C
authors.lastname: Zhao
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: lna301@126.com.
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: Yinbug@163.com.
authors.forename: Zifang
authors.initials: Z
authors.lastname: Yin
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: cell-099@163.com.
authors.forename: Liang
authors.initials: L
authors.lastname: Zong
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: ggy3u@126.com.
authors.forename: Jing
authors.initials: J
authors.lastname: Guan
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: wangdy301@126.com.
authors.forename: Dayong
authors.initials: D
authors.lastname: Wang
authors.affiliation: Department of Communicative Disorders & Sciences, Center for Hearing and Deafness, University at Buffalo, The State University of New York, Buffalo, NY 14215, USA. Electronic address: weisun@buffalo.edu.
authors.forename: Wei
authors.initials: W
authors.lastname: Sun
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, China. Electronic address: wqcr@263.net.
authors.forename: Qiuju
authors.initials: Q
authors.lastname: Wang
mesh_terms: D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D003054:Cochlear Implants; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D005334:Fever / Q000503:physiopathology; D005838:Genotype; D006309:Hearing; D034381:Hearing Loss / Q000175:diagnosis* / Q000235:genetics; D006313:Hearing Loss, Central / Q000175:diagnosis* / Q000235:genetics; D006320:Hearing Tests; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013696:Temperature
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human
keywords: Auditory neuropathy; Cochlear implant; OTOF; Otoferlin; Temperature-sensitive