Genetics of Childhood Hearing Loss

Calli Ober Mitchell; Cynthia Casson Morton

doi:10.1016/j.otc.2021.08.008

Genetics of Childhood Hearing Loss

Otolaryngol Clin North Am. 2021 Dec;54(6):1081-1092. doi: 10.1016/j.otc.2021.08.008.

Authors

Calli Ober Mitchell¹, Cynthia Casson Morton²

Affiliations

¹ Department of Obstetrics and Gynecology, Brigham and Women's Hospital, NRB 160, 77 Avenue Louis Pasteur, Boston, MA 02115, USA. Electronic address: https://twitter.com/CalliMitchell3.
² Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, NRB 160, 77 Avenue Louis Pasteur, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, UK. Electronic address: cmorton@bwh.harvard.edu.

PMID: 34774226
DOI: 10.1016/j.otc.2021.08.008

Abstract

Compelling evidence indicates that some newborns harboring genetic variants associated with hearing loss might not be identified by current physiologic newborn hearing screening (NBHS) rendering current NBHS protocols suboptimal. Incorporating genomic sequencing into NBHS would improve clinical diagnosis and decrease time to early intervention efforts.

Keywords: Copy number variant interpretation; Early intervention; Genetics; Genomics; Hereditary hearing loss; Newborn hearing screening; Precision medicine; Single nucleotide variant interpretation.

Publication types

Review

MeSH terms

Deafness*
Genetic Testing
Hearing Loss* / diagnosis
Hearing Loss* / genetics
Hearing Tests
Humans
Infant, Newborn
Neonatal Screening