The natural history of the relationship between <i>OTOF</i> mutation-related genotypes and audiological phenotypes.

Lei HAN; Liheng CHEN; Sha YU; Yuxin CHEN; Luoying JIANG; Shuang HAN; Jiake ZHONG; Luo GUO; Huawei LI; Yilai SHU

Return

The natural history of the relationship between OTOF mutation-related genotypes and audiological phenotypes.

Author: Lei HAN ¹ ; Liheng CHEN ¹ ; Sha YU ¹ ; Yuxin CHEN ¹ ; Luoying JIANG ¹ ; Shuang HAN ¹ ; Jiake ZHONG ¹ ; Luo GUO ¹ ; Huawei LI ¹ ; Yilai SHU ¹
Author Information

1. ENT Institute and Department of Otorhinolaryngology，Eye & ENT Hospital，Fudan University，Shanghai，200031，China.
Publication Type:English Abstract
Keywords: OTOF gene; auditory neuropathy; hearing loss; hereditary
MeSH: Humans; Mutation; Phenotype; Genotype; Hearing Loss, Sensorineural/genetics*; Membrane Proteins/genetics*
From: Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(4):379-385
CountryChina
Language:Chinese
Abstract: Sensorineural hearing loss is one of the most common sensory disorders. In recent years, auditory neuropathy spectrum disorders caused by mutations in the OTOF gene have garnered significant attention worldwide, marking it as the first deafness gene with breakthroughs in gene therapy. Most patients with OTOF gene mutations present with stable, congenital, or prelingual onset of hearing loss, which can range from severe to profound and even complete hearing loss. However, a minority of patients may exhibit mild to moderate progressive hearing loss or temperature-sensitive hearing loss. This review further explores the genotype-phenotype relationship of the OTOF gene based on reported cases in China and abroad. Additionally, we analyze the characteristics of the natural history of OTOF gene mutations within the Chinese population. This study aims to provide a reference for the clinical diagnosis, evaluation, and treatment of hearing loss associated with OTOF gene mutations.