Connexin 26 (GJB2) gene mutation is the most common cause of congenital non-syndromic autosomal recessive hearing loss worldwide. Which of the following statements regarding connexin 26-related hearing loss is MOST accurate?
- A It causes progressive moderate-to-severe SNHL that typically begins in adulthood
- B It is associated with dominant inheritance and vestibular dysfunction
- C Hearing loss is typically congenital, non-progressive, and ranges from mild to profound; cochlear implant outcomes are generally excellent ✓
- D Temporal bone CT reliably identifies GJB2-related cochlear structural abnormalities
Correct answer: C. Hearing loss is typically congenital, non-progressive, and ranges from mild to profound; cochlear implant outcomes are generally excellent
Explanation
GJB2 (connexin 26) mutations (most commonly 35delG in Caucasians, 235delC in East Asians) cause non-syndromic autosomal recessive hearing loss (DFNB1 locus). The loss is typically congenital, stable (non-progressive), and spans a wide severity range from mild to profound. Cochlear structure is usually normal on temporal bone CT, and cochlear implantation yields excellent speech and language outcomes — among the best of any aetiological group — because the auditory nerve and higher pathways are intact.
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.