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Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature

In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing lo...

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Autores principales: Trebusak Podkrajsek, Katarina, Tesovnik, Tine, Bozanic Urbancic, Nina, Battelino, Saba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066333/
https://www.ncbi.nlm.nih.gov/pubmed/33810548
http://dx.doi.org/10.3390/genes12040484
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author Trebusak Podkrajsek, Katarina
Tesovnik, Tine
Bozanic Urbancic, Nina
Battelino, Saba
author_facet Trebusak Podkrajsek, Katarina
Tesovnik, Tine
Bozanic Urbancic, Nina
Battelino, Saba
author_sort Trebusak Podkrajsek, Katarina
collection PubMed
description In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate the genetic etiology of hearing loss in a family with moderate late-onset hearing loss using next-generation sequencing and to conduct a review of reported variants in the GRHL2 gene. We identified a novel disease-causing variant in the GRHL2 gene (NM_024915: c.1510C>T; p.Arg504Ter) in both affected members of the family. They both presented with moderate late-onset hearing loss with no additional clinical characteristics. Reviewing known GRHL2 variants associated with hearing loss, we can conclude that they are more likely to be truncating variants, while the associated onset of hearing loss is variable.
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spelling pubmed-80663332021-04-25 Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature Trebusak Podkrajsek, Katarina Tesovnik, Tine Bozanic Urbancic, Nina Battelino, Saba Genes (Basel) Article In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate the genetic etiology of hearing loss in a family with moderate late-onset hearing loss using next-generation sequencing and to conduct a review of reported variants in the GRHL2 gene. We identified a novel disease-causing variant in the GRHL2 gene (NM_024915: c.1510C>T; p.Arg504Ter) in both affected members of the family. They both presented with moderate late-onset hearing loss with no additional clinical characteristics. Reviewing known GRHL2 variants associated with hearing loss, we can conclude that they are more likely to be truncating variants, while the associated onset of hearing loss is variable. MDPI 2021-03-26 /pmc/articles/PMC8066333/ /pubmed/33810548 http://dx.doi.org/10.3390/genes12040484 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
Trebusak Podkrajsek, Katarina
Tesovnik, Tine
Bozanic Urbancic, Nina
Battelino, Saba
Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
title Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
title_full Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
title_fullStr Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
title_full_unstemmed Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
title_short Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature
title_sort novel grhl2 gene variant associated with hearing loss: a case report and review of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066333/
https://www.ncbi.nlm.nih.gov/pubmed/33810548
http://dx.doi.org/10.3390/genes12040484
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