Physiology & Biochemistry · patient case question
What is the inheritance pattern of this condition?
Patient case: Gorlin-Goltz syndrome
Scenario: A patient with GORLIN-GOLTZ syndrome (nevoid basal cell carcinoma syndrome).
Show answer and explanation
Correct answer: A. Autosomal dominant
- A. Correct. Gorlin-Goltz syndrome is AUTOSOMAL DOMINANT, caused by mutation of the PTCH1 tumour suppressor gene on chromosome 9q, with high penetrance and variable expressivity.
- B. X-linked dominant is rare; hypophosphatemic (vitamin D-resistant) rickets is the usual example.
- C. X-linked recessive conditions predominantly affect males through carrier mothers — hemophilia A/B is the classic example.
- D. Autosomal recessive would require two affected alleles and typically shows no vertical transmission through generations; Papillon-Lefèvre is the autosomal recessive syndrome commonly tested.
Note: Cleidocranial dysplasia (RUNX2) is ALSO autosomal dominant — do not use inheritance pattern to distinguish these two; use the clinical features.
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