Hearing Loss Secondary to TECTA Gene Mutations

To assess the prevalence and clinical characterization of variants in the TECTA gene among individuals with bilateral sensorineural hearing loss of unknown etiology in northern Spain.

A 6-year (2018-2024) observational, prospective, and descriptive study was conducted on patients with bilateral sensorineural hearing loss at a tertiary hospital. Next generation sequencing using a gene panel for sensorineural hearing loss was performed to detect pathogenic, likely pathogenic, or variants of unknown significance in the TECTA gene.

Among 326 patients, pathogenic or likely pathogenic TECTA variants were found in 7 patients (2.14%), including c.3107G>A (n = 6) and c.5383+6T>A (n = 1). Variants of unknown significance were found in 8 patients (2.45%). About 14 of 15 probands had a family history of hearing loss with autosomal dominant inheritance. Eight relatives with confirmed pathogenic variants were also included, totalling 23 cases. Six patients with pathogenic variants and 3 with variants of unknown significance had moderate mid-frequency hearing loss, while others had severe high-frequency loss. Hearing loss was typically progressive, ranging from congenital onset to the fifth decade. Most were treated with hearing aids; none required cochlear implants.

TECTA gene variants are relatively common in this population, with c.3107G>A being the most frequent. The typical phenotype is slowly progressive, mid-to-high frequency sensorineural hearing loss, often starting in childhood and usually requiring hearing aids fitting with good results in improving speech intelligibility.