Medical genetics: tuberous sclerosis: 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: tuberous sclerosis

Sample item

An infant has infantile spasms, hypopigmented ash-leaf macules and multiple echogenic cardiac masses. Which genes are mutated in this condition?

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

The answer and the reasoning

B. TSC1 and TSC2

Tuberous sclerosis is an autosomal dominant disorder caused by mutations in TSC1 (hamartin, chromosome 9) or TSC2 (tuberin, chromosome 16). Cardiac rhabdomyomas, cortical tubers and renal angiomyolipomas are typical.

Option by option

  • A. PTCH1 and SMO

    PTCH1 mutation causes Gorlin syndrome.

  • B. TSC1 and TSC2 (correct)

    Correct. TSC1 and TSC2 mutations cause tuberous sclerosis.

  • C. VHL and MEN1

    VHL and MEN1 cause von Hippel-Lindau disease and multiple endocrine neoplasia type 1.

  • D. NF1 and NF2

    NF1 and NF2 cause neurofibromatosis types 1 and 2.

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 B, TSC1 and TSC2. Tuberous sclerosis is an autosomal dominant disorder caused by mutations in TSC1 (hamartin, chromosome 9) or TSC2 (tuberin, chromosome 16).

Why is "PTCH1 and SMO" not the answer?

PTCH1 mutation causes Gorlin syndrome.

Why is "VHL and MEN1" not the answer?

VHL and MEN1 cause von Hippel-Lindau disease and multiple endocrine neoplasia type 1.

Why is "NF1 and NF2" not the answer?

NF1 and NF2 cause neurofibromatosis types 1 and 2.

What concept does this question test?

It tests Medical genetics: tuberous sclerosis in Anatomy. Cardiac rhabdomyomas, cortical tubers and renal angiomyolipomas are typical.

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: tuberous sclerosis?

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.