Last updated 2mo ago
Log in to add personal notes on this page.
A newborn fails the newborn hearing screen. Audiologic evaluation confirms bilateral severe-to-profound sensorineural hearing loss. Physical exam is normal. Genetic testing reveals two pathogenic variants in GJB2.
AR; GJB2 gene (connexin 26)
- Most common cause of genetic non-syndromic hearing loss
- c.35delG most common variant in Caucasians
- c.167delT in Ashkenazi Jewish population
- c.235delC in East Asian populations
- Non-syndromic sensorineural hearing loss
- Usually congenital, bilateral, stable
- Severity varies (mild to profound)
- Normal vestibular function
- Cochlear implant candidates
- Newborn hearing screen (OAE/ABR), with diagnostic audiometry to confirm bilateral sensorineural hearing loss
- Normal physical exam and absence of syndromic features support a non-syndromic etiology
- Molecular confirmation: GJB2 (connexin 26) sequencing, including testing for large GJB6 deletions in compound cases
- Hearing rehabilitation: early hearing aids; cochlear implantation for severe-to-profound loss
- Early intervention with speech-language therapy and a communication-modality plan
- Serial audiometry to monitor for progression and titrate amplification