Syndromes: Alport syndrome: 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 · Syndromes: Alport syndrome

Sample item

A boy has haematuria, progressive bilateral sensorineural hearing loss and anterior lenticonus. Which gene is most commonly affected?

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

The answer and the reasoning

C. COL4A5

Alport syndrome is most often X-linked and caused by COL4A5 mutations affecting type IV collagen, which is found in glomerular basement membrane, cochlea and lens. It causes nephritis, high-frequency sensorineural loss and anterior lenticonus.

Option by option

  • A. SLC26A4

    SLC26A4 causes Pendred syndrome.

  • B. TCOF1

    TCOF1 causes Treacher Collins syndrome.

  • C. COL4A5 (correct)

    Correct. COL4A5 encodes the type IV collagen alpha-5 chain.

  • D. GJB2

    GJB2 causes non-syndromic deafness.

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 C, COL4A5. Alport syndrome is most often X-linked and caused by COL4A5 mutations affecting type IV collagen, which is found in glomerular basement membrane, cochlea and lens.

Why is "SLC26A4" not the answer?

SLC26A4 causes Pendred syndrome.

Why is "TCOF1" not the answer?

TCOF1 causes Treacher Collins syndrome.

Why is "GJB2" not the answer?

GJB2 causes non-syndromic deafness.

What concept does this question test?

It tests Syndromes: Alport syndrome in ENT. It causes nephritis, high-frequency sensorineural loss and anterior lenticonus.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Syndromes: Alport syndrome?

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.