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Updated: Jul 17, 2026

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

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 Zhou^1,2,3, Qiujing Zhang^4,2,3, Xiaolong Zhang^1,2,3

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

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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.

Keywords:

OTOF Natural history Temperature-sensitive auditory neuropathy

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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.