Updates in TECTA Mutation Spectrum: A Scoping Review.
4 affiliations
- 1ENT and Audiology Department, University Hospital of Ferrara, Via Aldo Moro 8, Cona, 44124 Ferrara, Italy.
- 2ENT, Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, University of Verona, Borgo Roma Hospital, 37134 Verona, Italy.
- 3Audiology, Primary Care Department, AUSL of Modena, 41100 Modena, Italy.
- 4Medical Genetics Unit, University Hospital of Parma, Via Gramsci 14, 43126 Parma, Italy.
Abstract
Background/Objectives: The TECTA gene variant is one of the most common causes of nonsyndromic congenital hearing loss affecting the mid-frequency range. Situated on chromosome 11q22-q24, the TECTA gene encodes α-tectorin, a non-collagenous protein of the tectorial membrane. Pathogenetic variants of TECTA are relatively rare, and numerous variants have been described, complicating the delineation of a clear and recognizable clinical phenotype. This scoping review aims to provide an up-to-date overview of the known TECTA variants causing autosomal dominant sensorineural hearing loss (ADSNHL) and their associated audiological phenotypes. Methods: A review of the English-language literature on hearing loss associated with TECTA variants was conducted using PubMed, Scopus, Google Scholar, and MEDLINE databases, in accordance with the "Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)" criteria for scoping review. Results: Eighteen studies met all inclusion criteria. Overall, 44 unique TECTA variants were identified after recurrent reports of the same cDNA-level variant were consolidated. Of these, 14 were classified as pathogenic or likely pathogenic (P/LP), 9 as variants of uncertain significance (VUS), while the remaining 21 had conflicting, benign/likely benign, or unavailable classification. Domain-based analysis showed a marked prevalence of variants in the ZA domain (21 variants, 47.73%), followed by the ZP domain (14 variants, 31.82%) and the ENT domain (5 variants, 11.36%). Thirty-two variant occurrences were reported in association with hearing loss in the mid frequencies and 12 in the high frequencies. Stable hearing loss was reported for 15 variant occurrences, whereas progressive hearing loss was reported for 13. Conclusions: The identification and characterization of novel genetic variants associated with hearing loss are essential for improving phenotype-genotype correlations. Early identification of the genetic etiology of hearing loss is becoming increasingly important, particularly in light of recent advances in gene therapy for pediatric hearing loss.
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BibTeX
@article{manuelli2026updates,
title = {{Updates in TECTA Mutation Spectrum: A Scoping Review.}},
author = {Marianna Manuelli and Andrea Migliorelli and Stefano Pelucchi and Francesco Stomeo and Daniele Monzani and Silvia Palma and Giulia Vitetta and Chiara Bianchini and Andrea Ciorba},
journal = {Audiology research},
year = {2026},
month = sep,
doi = {10.3390/audiolres16050140},
url = {https://europepmc.org/article/MED/42930338},
note = {CC BY},
}
RIS
TY - JOUR
TI - Updates in TECTA Mutation Spectrum: A Scoping Review.
AU - Marianna Manuelli
AU - Andrea Migliorelli
AU - Stefano Pelucchi
AU - Francesco Stomeo
AU - Daniele Monzani
AU - Silvia Palma
AU - Giulia Vitetta
AU - Chiara Bianchini
AU - Andrea Ciorba
PY - 2026
DA - 2026/09/21
JO - Audiology research
DO - 10.3390/audiolres16050140
UR - https://europepmc.org/article/MED/42930338
AB - Background/Objectives: The TECTA gene variant is one of the most common causes of nonsyndromic congenital hearing loss affecting the mid-frequency range. Situated on chromosome 11q22-q24, the TECTA gene encodes α-tectorin, a non-collagenous protein of the tectorial membrane. Pathogenetic variants of TECTA are relatively rare, and numerous variants have been described, complicating the delineation of a clear and recognizable clinical phenotype. This scoping review aims to provide an up-to-date overview of the known TECTA variants causing autosomal dominant sensorineural hearing loss (ADSNHL) and their associated audiological phenotypes. Methods: A review of the English-language literature on hearing loss associated with TECTA variants was conducted using PubMed, Scopus, Google Scholar, and MEDLINE databases, in accordance with the "Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)" criteria for scoping review. Results: Eighteen studies met all inclusion criteria. Overall, 44 unique TECTA variants were identified after recurrent reports of the same cDNA-level variant were consolidated. Of these, 14 were classified as pathogenic or likely pathogenic (P/LP), 9 as variants of uncertain significance (VUS), while the remaining 21 had conflicting, benign/likely benign, or unavailable classification. Domain-based analysis showed a marked prevalence of variants in the ZA domain (21 variants, 47.73%), followed by the ZP domain (14 variants, 31.82%) and the ENT domain (5 variants, 11.36%). Thirty-two variant occurrences were reported in association with hearing loss in the mid frequencies and 12 in the high frequencies. Stable hearing loss was reported for 15 variant occurrences, whereas progressive hearing loss was reported for 13. Conclusions: The identification and characterization of novel genetic variants associated with hearing loss are essential for improving phenotype-genotype correlations. Early identification of the genetic etiology of hearing loss is becoming increasingly important, particularly in light of recent advances in gene therapy for pediatric hearing loss.
SN - 2039-4330
SN - 2039-4349
ER -