Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.

doi:10.1016/j.dld.2024.09.002

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Article

Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Feb 2025

Alonso-Castellano Pablo, Tugores Antonio, Mariño Zoe, Olveira Antonio, Berenguer Marina, Huarte M Pilar, Fernández-Ramos Jose R, Lázaro-Ríos María, González-Diéguez María L, Moreno-Planas José M, Hernández-Guerra Manuel, Fernández-Álvarez Paula, Delgado-Blanco Manuel, Pinazo-Bandera José M, Romero Marta, Ampuero Javier, Masnou-Ridaura Helena, Cachero Alba, Vargas Víctor, Gómez-Camarero Judith, Morillas-Ariño María J, Molina-Pérez Esther, Miralpeix Anna, García-Villarreal Luis

Abstract excerpt

BACKGROUND & AIMS: Wilson disease (WD) is a copper metabolism disorder caused by mutations in ATP7B gene, with significant clinical variability. Several studies have analyzed the prevalence and penetrance of mutations. We evaluated both characteristics for our more frequent mutations. METHODS: Evaluation of 260 patients from the National Registry: clinical, analytical and genetic data. Estimation of homozygotes...

Topics

Humans
Hepatolenticular Degeneration
Copper-Transporting ATPases
Male
Female
Registries
Penetrance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Prevalence

Mutation

Middle Aged

Adolescent

Young Adult

Homozygote

Child

Heterozygote

Source

Open in PubMed

Identifiers

PMID: 39322449
DOI: 10.1016/j.dld.2024.09.002

Genes

ATP7B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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