What is Nonsyndromic Hearing Loss, GJB2-related?

Nonsyndromic hearing loss, GJB2-related, also known as DFNB1, is a condition characterized by hearing loss. It is caused by harmful genetic changes (variants) in the GJB2 gene. The GJB2 gene plays an important role in transporting materials between the cells of the inner ear (cochlea). Harmful changes in GJB2 cause abnormalities in the transport process, which results in hearing loss.

Individuals with nonsyndromic hearing loss, GJB2-related, have hearing loss from birth (congenital). Hearing loss is most often in the severe to profound range, though in some cases it may be milder. The severity of hearing loss can vary even among individuals in the same family. In most individuals, hearing loss does not worsen with time, but in some it does. This condition does not cause symptoms in any other areas of the body.

How common is Nonsyndromic Hearing Loss, GJB2-related?

There are many different genetic and environmental causes of congenital hearing loss, which has an incidence of between 1 in 500 and 1 in 1000 births. Approximately 15-20% of congenital hearing loss is caused by GJB2. Nonsyndromic hearing loss, GJB2-related, is more common among individuals of Asian, Ashkenazi Jewish, and European descent.

How is Nonsyndromic Hearing Loss, GJB2-related treated?

Devices such as cochlear implants or hearing aids may be used to improve hearing. Children with the condition can be enrolled in educational programs specifically designed for the deaf.

What is the prognosis for an individual with Nonsyndromic Hearing Loss, GJB2-related?

While a person with this condition will have hearing loss, it does not shorten lifespan and does not impact other systems of the body.

Other names for
nonsyndromic hearing loss, GJB2-related

  • Autosomal recessive deafness 1
  • DFNB1
  • DFNB1 nonsyndromic hearing loss and deafness
  • GJB2-related DFNB1 nonsyndromic hearing loss and deafness
  • Neurosensory nonsyndromic recessive deafness 1

References

  • Chan et al., 2014, Laryngoscope, 124(2):E34-53, PMID: 23900770
  • Li et al., 2022, Genet Med., 24(7):1392-1406, PMID: 35802133
  • Sakata et al., 2023, Int J Mol Sci., 24(23):16763, PMID: 38069086
  • Smith et al., 2023, https://www.ncbi.nlm.nih.gov/books/NBK1272/
  • Wang et al., 2023, Front Cell Neurosci., 17:1208406, PMID: 37333892