Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients

Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this study, whole-genome se...

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Autores principales: Le Nabec, Anaïs, Collobert, Mégane, Le Maréchal, Cédric, Marianowski, Rémi, Férec, Claude, Moisan, Stéphanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391926/
https://www.ncbi.nlm.nih.gov/pubmed/34440441
http://dx.doi.org/10.3390/genes12081267
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author Le Nabec, Anaïs
Collobert, Mégane
Le Maréchal, Cédric
Marianowski, Rémi
Férec, Claude
Moisan, Stéphanie
author_facet Le Nabec, Anaïs
Collobert, Mégane
Le Maréchal, Cédric
Marianowski, Rémi
Férec, Claude
Moisan, Stéphanie
author_sort Le Nabec, Anaïs
collection PubMed
description Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this study, whole-genome sequencing (WGS) was performed on 10 DFNB1 patients with incomplete genotypes. New variations on GJB2 were identified for four patients. Functional assays were realized to explore the function of one of them in the GJB2 promoter and confirm its impact on GJB2 expression. Thus, in this study WGS resolved patient genotypes, thus unlocking diagnosis. WGS afforded progress and bridged some gaps in our research.
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spelling pubmed-83919262021-08-28 Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients Le Nabec, Anaïs Collobert, Mégane Le Maréchal, Cédric Marianowski, Rémi Férec, Claude Moisan, Stéphanie Genes (Basel) Article Hearing loss is the most common sensory defect, due in most cases to a genetic origin. Variants in the GJB2 gene are responsible for up to 30% of non-syndromic hearing loss. Today, several deafness genotypes remain incomplete, confronting us with a diagnostic deadlock. In this study, whole-genome sequencing (WGS) was performed on 10 DFNB1 patients with incomplete genotypes. New variations on GJB2 were identified for four patients. Functional assays were realized to explore the function of one of them in the GJB2 promoter and confirm its impact on GJB2 expression. Thus, in this study WGS resolved patient genotypes, thus unlocking diagnosis. WGS afforded progress and bridged some gaps in our research. MDPI 2021-08-19 /pmc/articles/PMC8391926/ /pubmed/34440441 http://dx.doi.org/10.3390/genes12081267 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Le Nabec, Anaïs
Collobert, Mégane
Le Maréchal, Cédric
Marianowski, Rémi
Férec, Claude
Moisan, Stéphanie
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
title Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
title_full Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
title_fullStr Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
title_full_unstemmed Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
title_short Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
title_sort whole-genome sequencing improves the diagnosis of dfnb1 monoallelic patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391926/
https://www.ncbi.nlm.nih.gov/pubmed/34440441
http://dx.doi.org/10.3390/genes12081267
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