Genetic Hearing Loss

Genetic hearing loss is caused by inherited variations in genes that affect the structure or function of the auditory system. It accounts for approximately 50 to 60 percent of congenital hearing loss (hearing loss present at birth). Genetic causes can be syndromic, meaning hearing loss occurs alongside other features such as vision problems (as in Usher syndrome), or non-syndromic, meaning hearing loss is the only apparent feature.

The most common genetic cause of non-syndromic hearing loss involves mutations in the GJB2 gene, which codes for a protein called connexin 26. Genetic hearing loss can also develop later in life, not only at birth. The pattern of inheritance varies: some forms are autosomal recessive, some autosomal dominant, and some X-linked.

Genetic counseling is available for families where genetic hearing loss has been identified. Management typically involves hearing aids for milder degrees of loss or, for severe to profound cases, cochlear implants. In Canada, genetic testing and counseling are available through hospital genetics programs.