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Physiology & Biochemistry · single question

Gorlin-Goltz syndrome — what is the inheritance pattern?

  1. Autosomal dominant
  2. Mitochondrial
  3. Autosomal recessive
  4. X-linked recessive
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Correct answer: A. Autosomal dominant

  • A. Gorlin-Goltz syndrome (Basal Cell Nevus Syndrome) is AUTOSOMAL DOMINANT, caused by mutations in the PTCH1 (Patched) gene on chromosome 9q22.3. As autosomal dominant, 50% of offspring are affected, it can appear in every generation, and de novo mutations account for about 20-30% of cases.
  • B. Gorlin is NOT mitochondrial inheritance — it is a nuclear gene (PTCH1) with autosomal dominant transmission.
  • C. Gorlin is NOT autosomal recessive — it is autosomal dominant.
  • D. Gorlin is NOT X-linked — it is autosomal.

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