Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Apr;141(3-4):311-314.
doi: 10.1007/s00439-021-02360-6. Epub 2021 Sep 4.

Genetic hearing loss: the audiologist's perspective

Carmen C Brewer  1 , Kelly A King  2
Affiliations

Genetic hearing loss: the audiologist's perspective

Carmen C Brewer et al. Hum Genet. 2022 Apr.

Abstract

As knowledge regarding the genetic underpinnings of hearing loss has rapidly evolved, the role of the clinician in managing the patient has expanded beyond that of defining the characteristics of the auditory phenotype. The importance and impact of a genetic diagnosis has yet to be fully realized in routine clinical care. However, audiologists are uniquely situated to be front-line healthcare providers for persons of all ages with hereditary hearing loss. Here, we discuss why the combination of genotype and phenotype are necessary for the delivery of personalized and effective clinical care for individuals with genetic hearing loss.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest The authors declare that they have no conflict of interests.

References

    1. Chan DK, Chang KW (2014) GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype. Laryngoscope 124:E34–53. 10.1002/lary.24332 - DOI - PubMed
    1. Chien WW, Monzack EL, McDougald DS, Cunningham LL (2015) Gene therapy for sensorineural hearing loss. Ear Hear 36:1–7. 10.1097/AUD/0000000000000088 - DOI - PubMed
    1. Eshraghi AA, Polineni SP, Davies C, Shahal D, Mittal J, Al-Zaghal Z, Sinha R, Jindal U, Mittal R (2020) Genotype-phenotype correlation for predicting cochlear implant outcome: current challenges and opportunities. Front Genet 11:678. 10.3389/fgene.2020.00678 - DOI - PMC - PubMed
    1. Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC (2011) Usher syndrome: hearing loss with vision loss. Adv Otorhinolaryngol 70:56–65. 10.1159/000322473 - DOI - PubMed
    1. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80–83. 10.1038/387080a0 - DOI - PubMed

LinkOut - more resources