Send to

Choose Destination

Nonsyndromic Hearing Loss and Deafness, DFNB1.


Smith RJH1, Jones MKN1.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1998 Sep 28 [updated 2016 Aug 18].

Author information

Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa



Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present.


Diagnosis of DFNB1 depends on molecular genetic testing to identify biallelic pathogenic variants in GJB2 (sequence variants as well as variants in upstream cis-regulatory elements that alter expression of the gap junction beta-2 protein [connexin 26]).


Treatment of manifestations: Hearing aids; enrollment in appropriate educational programs; consideration of cochlear implantation for individuals with profound deafness. Surveillance: Surveillance includes annual examinations and repeat audiometry to confirm stability of hearing loss. Evaluation of relatives at risk: If both pathogenic variants have been identified in an affected family member, molecular genetic testing can be used to clarify the genetic status of an at-risk relative in childhood so that appropriate early support and management can be provided.


DFNB1 is inherited in an autosomal recessive manner. In each pregnancy, the parents of a proband have a 25% chance of having a deaf child, a 50% chance of having a hearing child who is a carrier, and a 25% chance of having a hearing child who is not a carrier. When the GJB2 pathogenic variants causing DFNB1 are detected in an affected family member, carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic diagnosis are possible.

Copyright © 1993-2019, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Supplemental Content

Support Center