GJB2 (connexin 26) gene mutations are the most common cause of which type of hearing loss in children?

• A Conductive hearing loss
• B Non-syndromic autosomal recessive sensorineural hearing loss (NSARSNHL) ✓
• C Syndromic hearing loss (Usher syndrome)
• D Auditory neuropathy spectrum disorder

Explanation

Mutations in GJB2 (encoding connexin 26, a gap junction protein essential for potassium recycling in the cochlea) account for approximately 50% of non-syndromic autosomal recessive sensorineural hearing loss in many populations, making it the single most common genetic cause. Usher syndrome involves USH1/USH2 genes; auditory neuropathy involves OTOF (otoferlin) or DIAPH3 mutations. GJB2 does not cause conductive hearing loss.

Reference: Dhingra Diseases of Ear, Nose and Throat, 7th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.