DFNB1 nonsyndromic hearing loss and deafness is an inherited condition in which a person has mild to severe hearing loss from birth. It is caused by mutations in GJB2 (which encodes the protein connexin 26) and GJB6 (which encodes connexin 30). The condition is not progressive, meaning that it does not worsen over time.
The word “nonsyndromic” refers to the fact that there are no other symptoms or systems of the body involved with the disease. Unlike some other forms of hearing loss, DFNB1 nonsyndromic hearing loss and deafness does not affect balance or movement.
The degree of hearing loss is difficult to predict based on which genetic mutation one has. Even if members of the same family are affected by DFNB1 nonsyndromic hearing loss and deafness, the degree of hearing loss may vary among them.
In the United States, the United Kingdom, France, Australia, and New Zealand, approximately 14 in 100,000 people have DFNB1 nonsyndromic hearing loss and deafness. Roughly 1 in 33 people are carriers of the mutation that causes the condition.
People with DFNB1 nonsyndromic hearing loss and deafness may show improvement by using hearing aids. For people with profound deafness, cochlear implants may also be helpful. They may also want to consider enrolling in an educational program for the hearing impaired.
While a person with GJB2-related DFNB1 nonsyndromic hearing loss and deafness will have mild to severe hearing loss, it does not affect lifespan and does not affect any other part of the body.
A database of genetic information developed at the University of Washington, Seattle and funded by the government's National Institutes of Health. Note that the language of GeneReviews is largely written for medical professionals.
A non-profit that advocates for the rights of those with hearing loss, it also has numerous state chapters.
7910 Woodmont Ave, Suite 1200
Bethesda, MD 20814
Phone: (301) 657-2248
An organization devoted to preserving, protecting and promoting the civil, human and linguistic rights of all deaf Americans.
8630 Fenton Street, Suite 820
Silver Spring, MD 20910-3819
Phone: (301) 587-1788
TTY: (301) 587-1789