Nonsyndromic deafness

Nonsyndromic deafness is a type of hearing loss that does not have any visible abnormalities of the outer ear or any related medical problems. It is the most common type of genetic hearing loss, accounting for about 70% of all genetic hearing loss cases.

Causes

Nonsyndromic deafness can be caused by mutations in any one of a number of genes. The most common cause is a mutation in the GJB2 gene, which codes for a protein called connexin 26. Other genes that can cause nonsyndromic deafness include GJB6, SLC26A4, and MYO15A.

Inheritance

Nonsyndromic deafness can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner. The majority of cases are autosomal recessive, meaning both copies of the gene in each cell have mutations.

Symptoms

The primary symptom of nonsyndromic deafness is a varying degree of hearing loss. This can range from mild to profound and can affect one or both ears. The hearing loss can be present at birth or develop later in life.

Diagnosis

Diagnosis of nonsyndromic deafness is based on the symptoms, a physical examination, and confirmed through genetic testing.

Treatment

There is currently no cure for nonsyndromic deafness. Treatment focuses on improving the quality of life for individuals with this condition. This may include the use of hearing aids, cochlear implants, and other assistive devices.

See also

• Genetic hearing loss
• Hearing loss
• Connexin 26
• GJB2

Nonsyndromic deafness Resources
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