A 6-year-old child presents with bilateral profound congenital sensorineural hearing loss. CT temporal bone shows enlarged vestibular aqueduct (EVA) on both sides. Which genetic mutation is most commonly associated with this finding?

• A GJB2 (Connexin 26) gene mutation
• B SLC26A4 (Pendrin) gene mutation ✓
• C OTOF gene mutation
• D TMC1 gene mutation

Explanation

Enlarged vestibular aqueduct (EVA) is the most common inner ear malformation associated with congenital sensorineural hearing loss. Mutations in the SLC26B4 gene encoding pendrin are the most common cause. Pendred syndrome combines EVA with thyroid goiter. EVA-associated hearing loss may fluctuate or progress, often triggered by head trauma. GJB2 mutations cause hearing loss without inner ear malformations on imaging.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.