Related Experiment Video
Updated: Jul 17, 2026
09:44
Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
Published on: January 25, 2016
Temperature-sensitive auditory neuropathy: long-term follow-up and genotypic correlation.
Xin Zhou1,2,3, Qiujing Zhang4,2,3, Xiaolong Zhang1,2,3
1Department of Audio-Vestibular Medicine, Senior Department of Otolaryngology- Head and Neck Surgery, the Sixth Medical Center of Chinese PLA General Hospital, Beijing, 100048, China.
Orphanet Journal of Rare Diseases
|July 16, 2026
Summary
Temperature-sensitive auditory neuropathy (TSAN) linked to OTOF gene variants shows varied long-term outcomes. Despite heterogeneity, many patients achieve good hearing function, emphasizing personalized management for this rare condition.
Area of Science:
- Genetics and Audiology
- Rare Diseases
- Otoacoustic Emissions
Background:
- Temperature-sensitive auditory neuropathy (TSAN) is a rare subtype of auditory neuropathy.
- TSAN is characterized by fluctuating hearing and speech recognition influenced by temperature.
- It is primarily associated with biallelic variants in the OTOF gene.
Purpose of the Study:
- To characterize the long-term natural history of OTOF-related TSAN.
- To understand the functional consequences of specific OTOF variants.
- To explore genotype-phenotype correlations in TSAN.
Main Methods:
- Retrospective case series of 5 Han Chinese patients with TSAN and OTOF variants.
- Comprehensive audiological evaluations including ABR, OAE, CM, and speech recognition.
- Genetic analyses (whole-exome sequencing, Sanger validation) and in silico predictions.
Main Results:
- Identified 7 rare OTOF variants, including frameshift, nonsense, and missense types.
- Observed significant inter-individual variability in auditory outcomes over 5-21 years.
- Some patients showed near-normal hearing, while others had persistent deficits; cochlear implantation was beneficial for some.
Conclusions:
- OTOF-related TSAN exhibits clinical heterogeneity with generally favorable long-term outcomes.
- Findings expand the understanding of the OTOF mutational landscape in TSAN.
- Emphasizes the need for long-term monitoring and individualized management based on genotype and functional performance.
