Article
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence.
American journal of medical genetics. Part A - 1 Jul 2026
Nicastro Emanuele, Zuccoli Caterina, Marozzi Roberto, Barletta Antonino, Licini Lisa, Tebaldi Paola, Casotti Valeria, Stinco Mariangela, Pezzani Lidia, Iascone Maria, D'Antiga Lorenzo
Abstract excerpt
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings. Reduced penetrance of several ATP7B variants and the limited sensitivity of conventional biomarkers...
Topics
- Humans
- Hepatolenticular Degeneration
- Copper-Transporting ATPases
- Female
- Copper
- Adolescent
- Mutation
- Liver
- Biomarkers
- Ceruloplasmin