GJB2 and
Hearing Loss
There are many different causes of hearing loss. Mutations in the GJB2 gene are the most common cause of inherited, non-syndromic hearing loss worldwide. These genetic changes disrupt the function of connexin 26 protein in the inner ear. The result is hearing loss that is often present at birth and can significantly impair communication and quality of life.
Unlike syndromic hearing loss, which is accompanied by other medical conditions, GJB2-related hearing loss occurs in isolation, making the gene a precise target for therapeutic intervention.