Laryngoscope investigative otolaryngology · 2020
Genetics of pediatric hearing loss: A functional perspective.
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Khela Harmon, Kenna Margaret A
Аннотация
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.
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.