ArticleBMC medical genetics2018
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Quality of Life in Wilson's Disease: A Systematic Literature Review.Journal of health economics and outcomes research · 2021Pooled it
- Liver transplantation for Wilson disease: a spectrum from acute liver failure to Neuro-Wilson.BMC gastroenterology · 2026Article
- Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing.JHEP reports : innovation in hepatology · 2026Article
- Global burden of Wilson disease: a comprehensive evidence synthesis.Orphanet journal of rare diseases · 2026Article
- The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.International journal of molecular sciences · 2025Article
- Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspective.GE Portuguese journal of gastroenterology · 2025Review
- Diagnostic Dilemmas of Wilson's Disease.Cureus · 2025Article
- The relationship between psychological resilience, perceived social support, acceptance of illness and mindfulness in patients with hepatolenticular degeneration.Scientific reports · 2025Article
- Epidemiology and economic burden of Wilson disease in France: A nationwide population-based study.Journal of inherited metabolic disease · 2025Article
- Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.Biomedicines · 2024Article
- Profile of plasma microRNAs as a potential biomarker of Wilson's disease.Journal of gastroenterology · 2024Article
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.PloS one · 2024Article
- Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.Journal of personalized medicine · 2023Review
- Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.European journal of human genetics : EJHG · 2023Article
- A Study of Dopaminergic Pathway in Neurologic Wilson Disease with Movement Disorder.Molecular neurobiology · 2023Article
- Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2023Review
- A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.Biomedicines · 2023Article
- Mutation spectrum ofMolecular genetics and metabolism reports · 2022Article
- Practical insights into chronic management of hepatic Wilson's disease.World journal of clinical cases · 2022Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson's disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms of its clinical presentation and intensity. Diagnosing this metabolic disorder is important as a lifelong treatment, based on the use of copper chelating agents or zinc salts, is more effective if it's started early. Worldwide prevalence of WD is variable, with an average of 1/30,000. In France, a recent study based on French health insurance data estimated the clinical prevalence of the disease to be around 3/200,000.
methodsTo estimate the genetic prevalence of WD in France, we analysed the ATP7B gene by Next Generation Sequencing from a large French cohort of indiscriminate subjects.
resultsWe observed a high heterozygous carrier frequency of ATP7B in France. Among the 697 subjects studied, 18 variants classified as pathogenic or probably pathogenic were found at heterozygous level in 22 subjects (22 alleles/1394 alleles), yielding a prevalence of 0.032 or 1/31 subjects.
conclusionsThis considerable and unexplained discrepancy between the heterozygous carrier frequency and the clinical prevalence of WD may be explained by the clinical variability, the incomplete penetrance and the existence of modifiers genes. It suggests that the molecular analysis of ATP7B should be interpreted with caution, always alongside copper assays (ceruloplasmin, relative exchangeable copper, 24 h-urinary copper excretion) with particular respect to exome sequencing.
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