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    SubjectsENTGJB6 (Connexin-30) Non-Syndromic SNHL
    ClinicalENT

    GJB6 (Connexin-30) Non-Syndromic SNHL

    1 MCQs in ENT for NEET PG

    1 Medium
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    Sample Questions

    medium

    A 4-month-old girl born to non-consanguineous parents fails universal newborn hearing screening (absent OAE bilaterally). Audiometry confirms bilateral profound SNHL (>90 dB across all frequencies). Tympanometry is normal (type A). MRI temporal bones shows normal cochleovestibular anatomy. Genetic testing reveals a single heterozygous GJB2 mutation (35delG) and a large deletion del(GJB6-D13S1830) on the opposite chromosome. The audiological and genetic findings shown in the diagram at **A** are consistent with which of the following pathophysiological mechanisms?

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