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Dentistry · Oral pathology: McCune-Albright syndrome
Sample itemA girl has precocious puberty, cafe-au-lait macules and facial asymmetry with a ground-glass jaw lesion. Which gene is mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. GNAS
McCune-Albright syndrome is polyostotic fibrous dysplasia with endocrine hyperfunction and pigmentation, caused by post-zygotic activating GNAS mutation. The jaw shows a ground-glass radiographic pattern.
Option by option
A. GNAS (correct)
Correct. GNAS mosaicism causes this syndrome.
B. SH3BP2
SH3BP2 mutation causes cherubism.
C. RET
RET mutation causes MEN 2.
D. PTCH1
PTCH1 mutation causes Gorlin syndrome.
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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