Genetics of pediatric hearing loss: A functional perspective

Harmon Khela; Margaret A Kenna

doi:10.1002/lio2.390

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investig Otolaryngol. 2020 May 2;5(3):511-519. doi: 10.1002/lio2.390. eCollection 2020 Jun.

Authors

Harmon Khela¹, Margaret A Kenna²

Affiliations

¹ Summer Scholars Program, Otolaryngology and Communication Enhancement, Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.
² Department of Otolaryngology and Communication Enhancement Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.

Abstract

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.

Keywords: deafness; exome; genetics; genome; next‐generation sequencing; pediatric hearing loss; sensorineural hearing loss.

Publication types

Review