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Inicio Acta Otorrinolaringológica Española Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of ...
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Vol. 71. Issue 3.
Pages 166-174 (May - June 2020)
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Vol. 71. Issue 3.
Pages 166-174 (May - June 2020)
Original article
Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of Sensorineural Hearing Loss in a Childhood Hearing Loss Unit
Utilidad clínica de la secuenciación de nueva generación en el diagnóstico etiológico de la hipoacusia neurosensorial en una Unidad de Hipoacusia Infantil
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María Costalesa,
Corresponding author
costi2@hotmail.com

Corresponding author.
, Marta Diñeirob, Guadalupe Á. Cifuentesb, Raquel Capínb, Andrea Oterob, Mónica Viejo-Díazc, Ana Plasenciac, Faustino Núñeza, Justo Ramón Gómeza, José Luis Llorentea, Juan Cadiñanosb, Rubén Cabanillasb
a Servicio de Otorrinolaringología, Hospital Universitario Central de Asturias, Oviedo, Spain
b Instituto Medicina Oncológica Molecular de Asturias (IMOMA), Oviedo, Spain
c Servicio Genética, Hospital Universitario Central de Asturias, Oviedo, Spain
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Tables (3)
Table 1. Genes Included in the Panel Version 2.
Table 2. Characteristics of the Patients.
Table 3. Genotype-phenotype Correlations.
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Abstract
Introduction

Sensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. The next generation genomic sequencing (NGS) allows to obtain an etiological diagnosis in a high percentage of patients. Our pilot study shows the results of the systematic application of NGS in a Childhood Hearing Loss Unit, as well as its implications in the clinical management of patients and their families.

Material and method

We included 27 patients diagnosed with SNH between 2014 and 2017, in which an environmental cause was ruled out. The genetic test consisted of a panel of genes analyzed by NGS (OTOgenics™ panel). This panel has been designed to include genes associated with sensorineural or mixed hearing loss, early onset or late, syndromic and non-syndromic, regardless of their inheritance pattern.

Results

A genetic diagnosis was obtained in 56% (15/27) of the patients (62% in the case of bilateral HNS). 5/27 (19%) presented pathogenic variants in the GJB2 gene and the rest variants pathogenic and/or probably pathogenic in other genes associated with isolated HNS (PR2 × 2, TECTA and STRC), with syndromic HNS (CHD7, GATA3, COL4A5, MITF and SOX10) or with syndromic and non-syndromic HNS (BSND, ACTG1 and CDH23).

Discussion

The etiological diagnosis of SNL is a challenge in clinical practice. Our series demonstrates that it is possible to implement genetic diagnosis in the daily routine and that this information has prognostic and therapeutic implications.

Keywords:
Sensorineural hearing loss
DNA sequencing
Children
Resumen
Introducción

La hipoacusia neurosensorial (HNS) es el déficit sensorial más prevalente en nuestro medio. La secuenciación genómica de nueva generación (NGS) permite obtener un diagnóstico etiológico en un alto porcentaje de pacientes. Nuestro estudio piloto muestra los resultados de la aplicación sistemática de la NGS en una Unidad de Hipoacusia Infantil, así como sus implicaciones en el manejo clínico de los pacientes y sus familiares.

Material y método

Se incluyeron 27 pacientes diagnosticados de HNS entre 2014 y 2017 en los que se descartó una causa ambiental. El test genético consistió en un panel de genes analizados mediante NGS (panel OTOgenics™). Este panel ha sido diseñado para incluir genes asociados con hipoacusia neurosensorial o mixta, de inicio precoz o tardío, sindrómica y no sindrómica, independientemente de su patrón de herencia.

Resultados

Se obtuvo un diagnóstico genético en el 56% (15/27) de los pacientes (62% en el caso de las HNS bilaterales). 5/27 (19%) presentaron variantes patogénicas en el genGJB2 y el resto variantes patogénicas y/o probablemente patogénicas en otros genes asociados con HNS aislada (PR2 × 2, TECTA y STRC), con HNS sindrómicas (CHD7, GATA3, COL4A5, MITF y SOX10) o con HNS sindrómicas y no sindrómicas (BSND, ACTG1 y CDH23).

Discusión

El diagnóstico etiológico de la HNS supone un desafío en la práctica clínica. Nuestra serie demuestra que es posible implementar el diagnóstico genético en la rutina asistencial y que esta información tiene implicaciones pronósticas y terapéuticas.

Palabras clave:
Hipoacusia neurosensorial
Secuenciación de ADN
Niños

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