Non-Syndromic Hearing Loss (GJB2-Related) (GJB2)

Non-syndromic hearing loss (GJB2-related) is an autosomal recessive disorder that is caused by pathogenic variants in the gene GJB2. It is found in individuals of many different ethnicities, but it more prevalent in individuals of Ashkenazi Jewish descent, as well as Caucasians and Asians. Patients with this form of hearing loss do not experience any other disease manifestations. Hearing loss is usually present from birth and does not progress in severity over time. The level of hearing loss can vary between patients from mild to profound. Patients with two inactivating variants are more likely to have profound hearing loss, whereas patients with two non-inactivating variants are more likely to have mild hearing loss. However, the variability that exists between patients means that it may not be possible to predict the severity of an individuals hearing loss based on their genotype. Life expectancy is not reduced.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Non-Syndromic Hearing Loss (GJB2-Related)GJB21, 2 [2] (*21)ARCaucasian1 in 4288%0.00291545189504373
Non-Syndromic Hearing Loss (GJB2-Related)GJB21, 2 [2] (*21)ARAsian1 in 5083%0.00346020761245675
Non-Syndromic Hearing Loss (GJB2-Related)GJB21, 2 [2] (*21)ARAshkenazi Jewish1 in 21>95%0.00249376558603491
Non-Syndromic Hearing Loss (GJB2-Related)GJB21, 2 [2] (*21)ARWorldwide1 in 4374%0.00613496932515337