Open AccessGenetics of pediatric hearing loss: A functional perspective
Author(s) -
Khela Harmon,
Kenna Margaret A.
Publication year - 2020
Publication title -
laryngoscope investigative otolaryngology
Language(s) - English
Resource type - Journals
ISSN - 2378-8038
DOI - 10.1002/lio2.390
Subject(s) - hearing loss , phenotype , genotype phenotype distinction , perspective (graphical) , genotype , medicine , biology , genetics , bioinformatics , gene , audiology , computer science , artificial intelligence
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.