ArticleGastroenterology research and practice2016
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.
Article in Gastroenterology research and practice, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- A Novel HomozygousACG case reports journal · 2026Article
- The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.Orphanet journal of rare diseases · 2026Article
- Re-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review.Cureus · 2025Article
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Challenges in the diagnosis of Wilson disease.Annals of translational medicine · 2019Review
- Article
- Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.Journal of human genetics · 2017Article
- Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.Medicine · 2016Review
- Multiplex PCR-based Sequencing ofJournal of clinical and experimental hepatologyArticle
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective. Wilson's disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-saving, cost-effective method for full sequencing of the whole ATP7B gene compared to the traditional Sanger sequencing. This is the first report on the clinical use of NGS to examine ATP7B gene. Materials and Methods. We used Ion Torrent Personal Genome Machine in four heterozygous patients for the identification of the other mutations and also in two patients with no known mutation. One patient with acute on chronic liver failure was a candidate for acute liver transplantation. The results were validated by Sanger sequencing. Results. In each case, the diagnosis of Wilson's disease was confirmed by identifying the mutations in both alleles within 48 hours. One novel mutation (p.Ala1270Ile) was found beyond the eight other known ones. The rapid detection of the mutations made possible the prompt diagnosis of WD in a patient with acute liver failure. Conclusions. According to our results we found next-generation sequencing a very useful, reliable, time-saving, and cost-effective method for diagnosing Wilson's disease in selected cases.
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Registered trials
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