GJB2-related conditions are a group of conditions that cause mild to severe hearing loss from birth.
It is not expected to cause other symptoms or impact a person’s lifespan or intellect. This condition is caused by pathogenic (disease-causing) variants in the GJB2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 13 chance to be a carrier. Carriers typically do not experience any symptoms.
Another name for this condition is GJB2-related DFNB1 nonsyndromic hearing loss and deafness.