Abstract
Hearing loss is the most common sensory disorder affecting ~1 in 500 newborns. Over half of cases with congenital or prelingual-onset sensorineural hearing loss have underlying genetic causes. In this review, we outline the genetic evaluation of hearing loss with an emphasis on inner ear malformations.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Korver AM, Smith RJ, Van Camp G, et al. Congenital hearing loss. Nat Rev Dis Primers. 2017;12(3):16094.
ACMG. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genet Med. 2002;4(3):162–71.
Bademci G, Foster J II, Mahdieh N, et al. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med. 2016;18(4):364–71.
Yan D, Tekin D, Bademci G, et al. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet. 2016;135(8):953–61.
Tekin D, Tutar E, Akay HO, et al. Comprehensive genetic testing can save lives in hereditary hearing loss. Clin Genet. 2015;87(2):190–1.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Ocak, E., Bademci, G., Tekin, M. (2022). Genetic Evaluation in People with Sensorineural Hearing Loss. In: Sennaroglu, L. (eds) Inner Ear Malformations. Springer, Cham. https://doi.org/10.1007/978-3-030-83674-0_10
Download citation
DOI: https://doi.org/10.1007/978-3-030-83674-0_10
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-83673-3
Online ISBN: 978-3-030-83674-0
eBook Packages: MedicineMedicine (R0)