Genetic hearing loss: connexin 26: practice question

A ENT question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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ENT · Genetic hearing loss: connexin 26

Sample item

Which gene mutation is the commonest cause of non-syndromic autosomal recessive congenital sensorineural hearing loss?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

D. GJB2 (connexin 26)

Mutations in GJB2, encoding connexin 26, cause the most frequent non-syndromic congenital sensorineural loss. Connexin 26 forms gap junctions that recycle potassium in the cochlea. SLC26A4 is linked to Pendred syndrome and COL4A5 to Alport syndrome.

Option by option

  • A. SLC26A4

    SLC26A4 mutation causes Pendred syndrome.

  • B. MYO7A

    MYO7A mutation causes Usher syndrome type 1B.

  • C. COL4A5

    COL4A5 mutation causes X-linked Alport syndrome.

  • D. GJB2 (connexin 26) (correct)

    Correct. GJB2 is the commonest gene.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this ENT question

What is the answer to this ENT question?

The best answer is D, GJB2 (connexin 26). Mutations in GJB2, encoding connexin 26, cause the most frequent non-syndromic congenital sensorineural loss.

Why is "SLC26A4" not the answer?

SLC26A4 mutation causes Pendred syndrome.

Why is "MYO7A" not the answer?

MYO7A mutation causes Usher syndrome type 1B.

Why is "COL4A5" not the answer?

COL4A5 mutation causes X-linked Alport syndrome.

What concept does this question test?

It tests Genetic hearing loss: connexin 26 in ENT. Connexin 26 forms gap junctions that recycle potassium in the cochlea. SLC26A4 is linked to Pendred syndrome and COL4A5 to Alport syndrome.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Genetic hearing loss: connexin 26?

Learn tuning fork results and audiogram patterns by sketching them. Then use the flashcards and the other ENT questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.