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Dentistry · Oral pathology: cherubism
Sample itemA 4-year-old boy has painless symmetrical swelling of both mandibular angles and an upturned gaze with scleral show. Radiographs show bilateral multilocular lesions. Which gene is involved?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. SH3BP2
Cherubism is an autosomal dominant condition caused by SH3BP2 mutation, with bilateral multilocular giant-cell lesions of the jaws that usually regress after puberty. Eye findings arise from orbital floor involvement.
Option by option
A. PTCH1
PTCH1 mutation causes Gorlin syndrome.
B. GNAS
GNAS mutation causes fibrous dysplasia, usually unilateral.
C. SH3BP2 (correct)
Correct. SH3BP2 mutation causes cherubism.
D. FGFR3
FGFR3 mutation causes achondroplasia.
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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