Pathology · single question

What hereditary pattern does cherubism follow?

  1. Autosomal dominant (caused by mutations in the SH3BP2 gene)
  2. Autosomal recessive
  3. X-linked recessive
  4. Mitochondrial inheritance
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Correct answer: A. Autosomal dominant (caused by mutations in the SH3BP2 gene)

Cherubism follows an autosomal dominant inheritance pattern, caused by gain-of-function mutations in the SH3BP2 gene, leading to bilateral, symmetric, multilocular fibro-osseous jaw lesions in children that often stabilize or regress after puberty.

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