Hearing Loss Secondary to TECTA Gene Mutations

Area of Science:

• Genetics
• Otolaryngology
• Medical Diagnostics

Background:

• Bilateral sensorineural hearing loss (SNHL) of unknown etiology is a significant clinical challenge.
• Genetic factors play a crucial role in the etiology of SNHL.
• The TECTA gene encodes alpha-tectorin, a key component of the tectorial membrane, and its variants are associated with hearing impairment.

Purpose of the Study:

• To determine the prevalence of TECTA gene variants in individuals with unexplained bilateral SNHL in northern Spain.
• To clinically characterize the phenotype associated with TECTA variants in this population.

Main Methods:

• An observational, prospective, and descriptive study was conducted over six years (2018-2024) at a tertiary hospital.
• Next-generation sequencing (NGS) using a targeted gene panel was employed to identify variants in the TECTA gene.
• Patients with bilateral SNHL of unknown origin were recruited for genetic analysis.

Main Results:

• Pathogenic or likely pathogenic TECTA variants were identified in 7 out of 326 patients (2.14%).
• The most frequent pathogenic variant was c.3107G>A (6 patients), followed by c.5383+6T>A (1 patient).
• Variants of unknown significance were found in 8 patients (2.45%). The phenotype included moderate mid-frequency to severe high-frequency hearing loss, typically progressive from childhood, with good response to hearing aids.

Conclusions:

• TECTA gene variants are a relatively common genetic cause of SNHL in the studied population.
• The c.3107G>A variant is the most prevalent identified.
• The typical clinical presentation involves slowly progressive, mid-to-high frequency SNHL, often manageable with hearing aids, leading to improved speech intelligibility.