Medical genetics: Holt-Oram syndrome: practice question

A Anatomy 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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Anatomy · Medical genetics: Holt-Oram syndrome

Sample item

A newborn has hypoplastic thumbs with absent radii and an atrial septal defect with first-degree atrioventricular block. The father has similar upper limb anomalies. Which gene is mutated?

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

The answer and the reasoning

D. TBX5

Holt-Oram syndrome is an autosomal dominant condition caused by TBX5 mutation, giving upper limb radial ray defects with heart defects, especially atrial septal defects and conduction disease.

Option by option

  • A. TBX1

    TBX1 lies in the 22q11 deletion region and is linked with DiGeorge syndrome.

  • B. HOXD13

    HOXD13 mutation causes synpolydactyly of the hands and feet.

  • C. PAX3

    PAX3 mutation causes Waardenburg syndrome.

  • D. TBX5 (correct)

    Correct. TBX5 mutation causes combined radial ray and cardiac septal defects.

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 Anatomy question

What is the answer to this Anatomy question?

The best answer is D, TBX5. Holt-Oram syndrome is an autosomal dominant condition caused by TBX5 mutation, giving upper limb radial ray defects with heart defects, especially atrial septal defects and conduction disease.

Why is "TBX1" not the answer?

TBX1 lies in the 22q11 deletion region and is linked with DiGeorge syndrome.

Why is "HOXD13" not the answer?

HOXD13 mutation causes synpolydactyly of the hands and feet.

Why is "PAX3" not the answer?

PAX3 mutation causes Waardenburg syndrome.

What concept does this question test?

It tests Medical genetics: Holt-Oram syndrome in Anatomy. The correct option holds because: Correct. TBX5 mutation causes combined radial ray and cardiac septal defects.

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 Medical genetics: Holt-Oram syndrome?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.