Genetics of pediatric hearing loss: A functional perspective

OBJECTIVES: This article reviews the current role of genetics in pediatric hearing loss (HL). METHODS: A review of the current literature regarding the genetic basis of HL in children was performed. RESULTS: To date, 119 nonsyndromic genes have been associated with HL. There are also hundreds of syn...

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Detalles Bibliográficos
Autores principales: Khela, Harmon, Kenna, Margaret A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Otology, Neurotology, and Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314484/
https://www.ncbi.nlm.nih.gov/pubmed/32596495
http://dx.doi.org/10.1002/lio2.390
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author Khela, Harmon
Kenna, Margaret A.
author_facet Khela, Harmon
Kenna, Margaret A.
author_sort Khela, Harmon
collection PubMed
description OBJECTIVES: This article reviews the current role of genetics in pediatric hearing loss (HL). METHODS: A review of the current literature regarding the genetic basis of HL in children was performed. RESULTS: To date, 119 nonsyndromic genes have been associated with HL. There are also hundreds of syndromic causes that have HL as part of the clinical phenotype. CONCLUSIONS: Identifying HL genes coupled with clinical characteristics (“genotype‐phenotype”) yields a more accurate diagnosis and prognosis. Although the complexity of the auditory apparatus presents challenges, gene therapy is emerging and may be a viable management option in the future.
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spelling pubmed-73144842020-06-25 Genetics of pediatric hearing loss: A functional perspective Khela, Harmon Kenna, Margaret A. Laryngoscope Investig Otolaryngol Otology, Neurotology, and Neuroscience OBJECTIVES: This article reviews the current role of genetics in pediatric hearing loss (HL). METHODS: A review of the current literature regarding the genetic basis of HL in children was performed. RESULTS: To date, 119 nonsyndromic genes have been associated with HL. There are also hundreds of syndromic causes that have HL as part of the clinical phenotype. CONCLUSIONS: Identifying HL genes coupled with clinical characteristics (“genotype‐phenotype”) yields a more accurate diagnosis and prognosis. Although the complexity of the auditory apparatus presents challenges, gene therapy is emerging and may be a viable management option in the future. John Wiley & Sons, Inc. 2020-05-02 /pmc/articles/PMC7314484/ /pubmed/32596495 http://dx.doi.org/10.1002/lio2.390 Text en © 2020 The Authors. Laryngoscope Investigative Otolaryngology published by Wiley Periodicals, Inc. on behalf of The Triological Society. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Otology, Neurotology, and Neuroscience
Khela, Harmon
Kenna, Margaret A.
Genetics of pediatric hearing loss: A functional perspective
title Genetics of pediatric hearing loss: A functional perspective
title_full Genetics of pediatric hearing loss: A functional perspective
title_fullStr Genetics of pediatric hearing loss: A functional perspective
title_full_unstemmed Genetics of pediatric hearing loss: A functional perspective
title_short Genetics of pediatric hearing loss: A functional perspective
title_sort genetics of pediatric hearing loss: a functional perspective
topic Otology, Neurotology, and Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314484/
https://www.ncbi.nlm.nih.gov/pubmed/32596495
http://dx.doi.org/10.1002/lio2.390
work_keys_str_mv AT khelaharmon geneticsofpediatrichearinglossafunctionalperspective
AT kennamargareta geneticsofpediatrichearinglossafunctionalperspective

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