In Wilson's disease, which mutation type is most commonly found in European patients and in which gene?
- A H63D mutation in the HFE gene
- B H1069Q mutation in the ATP7B gene ✓
- C C282Y mutation in the ATP7B gene
- D R778L mutation in the CERULOPLASMIN gene
Correct answer: B. H1069Q mutation in the ATP7B gene
Explanation
Wilson's disease is caused by mutations in the ATP7B gene encoding a copper-transporting P-type ATPase. The H1069Q mutation in ATP7B accounts for approximately 35–70% of pathogenic alleles in European populations, making it the most common European mutation. H63D and C282Y are mutations in the HFE gene associated with hereditary haemochromatosis, not Wilson's disease. R778L is a common ATP7B mutation in East Asian populations. Ceruloplasmin is not encoded by ATP7B.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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