Genetics of pediatric hearing loss: A functional perspective

Abstract

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