Late Adult‐Onset Wilson Disease in ATP7B p. Met665Ile Variant: Further Evidence for Reduced Penetrance and a Hypomorphic Effect

Puntos clave

• The research aims to explore the effects of the ATP7B Met665Ile variant on the penetrance and expression of Wilson disease in late adulthood.
• Analysis of genetic variants associated with Wilson disease
• Evaluation of clinical presentations in individuals carrying the variant
• Found reduced penetrance in late adult-onset Wilson disease among patients with the variant
• Indicates a hypomorphic effect of the Met665Ile variant on the ATP7B gene