Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial

Reda del Barrio, Sara; de Vergas Gutiérrez, Joaquín; Quesada-Espinosa, Juan Francisco; Sánchez-Calvín, María Teresa; Gómez-Manjón, Irene; Sierra-Tomillo, Olalla; Juárez-Rufián, Alexandra; García Fernández, Alfredo

doi:10.1016/j.otorri.2023.10.003

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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

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 method

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 prioritized and analyzed.

Results

Twenty-four percent (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

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Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial

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