metricas
covid
Buscar en
Acta Otorrinolaringológica Española
Toda la web
Inicio Acta Otorrinolaringológica Española Diagnostic yield of genetic testing in adults with sensorineural hearing loss
Journal Information
Vol. 75. Issue 3.
Pages 185-191 (May - June 2024)
Share
Share
Download PDF
More article options
Vol. 75. Issue 3.
Pages 185-191 (May - June 2024)
Original article
Diagnostic yield of genetic testing in adults with sensorineural hearing loss
Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial
Sara Reda del Barrioa,
Corresponding author
sara.reda@salud.madrid.org

Corresponding author.
, Joaquín de Vergas Gutiérreza, Juan Francisco Quesada-Espinosab, María Teresa Sánchez-Calvínb, Irene Gómez-Manjónb, Olalla Sierra-Tomillob, Alexandra Juárez-Rufiánb, Alfredo García Fernándeza
a Department of Otolaryngology-Head and Neck Surgery, Hospital Universitario 12 de Octubre, Madrid, Spain
b Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (3)
Show moreShow less
Tables (3)
Table 1. Genes included in the hearing loss panel.
Table 2. Clinical and genetic characteristics of the detected genetic hearing losses.
Table 3. Detected syndromes.
Show moreShow less
Abstract
Introduction

The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL.

Materials and methods

We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed.

Results

24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes.

Conclusions

Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.

Keywords:
Next-generation sequencing
Exome
Sensorineural hearing loss
Adults
Resumen
Introducción

La contribución de la genética en la hipoacusia neurosensorial (HNS) del adulto es menos conocida que en la hipoacusia infantil y el diagnóstico genético aún no está protocolizado en adultos. En este estudio presentamos los resultados genéticos obtenidos en una serie de pacientes adultos con HNS bilateral.

Material y método

Se incluyeron 63 pacientes adultos diagnosticados de HNS bilateral a los que se les realizó un estudio genético mediante secuenciación masiva del exoma completo, filtrando el análisis para los genes incluidos en un panel virtual de 244 genes asociados a hipoacusia, entre los años 2019 y 2022.

Resultados

Se obtuvo un diagnóstico genético en el 24% (15/63) de los pacientes; el 87% (13/15) presentaban hipoacusias no sindrómicas y el 13% (2/15) hipoacusias sindrómicas. Se detectaron variantes patogénicas y probablemente patogénicas en 11 genes diferentes.

Conclusiones

Nuestros resultados muestran que una proporción significativa de adultos con HNS presentan un origen genético y que la realización de un estudio genético aumenta la precisión diagnóstica y permite un manejo personalizado de estos pacientes.

Palabras clave:
Secuenciación de nueva generación
Exoma
Hipoacusia neurosensorial
Adultos

Article

These are the options to access the full texts of the publication Acta Otorrinolaringológica Española
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Acta Otorrinolaringológica Española

Purchase
Purchase article

Purchasing article the PDF version will be downloaded

Price 19.34 €

Purchase now
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
E-mail
Article options
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos

Quizás le interese:
10.1016/j.otoeng.2023.07.002
No mostrar más