Diagnosing and Preventing Hearing Loss in the Genomic Age.
congenital
genetics
genomics
hearing loss
screening
Journal
Trends in hearing
ISSN: 2331-2165
Titre abrégé: Trends Hear
Pays: United States
ID NLM: 101635698
Informations de publication
Date de publication:
Historique:
entrez:
18
10
2019
pubmed:
18
10
2019
medline:
13
3
2020
Statut:
ppublish
Résumé
Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided.
Identifiants
pubmed: 31621509
doi: 10.1177/2331216519878983
pmc: PMC6798159
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2331216519878983Subventions
Organisme : Department of Health
ID : II-LB-0417-20002
Pays : United Kingdom
Organisme : NIDCD NIH HHS
ID : R01 DC015052
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007748
Pays : United States
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