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Gastroenterology Research and Practice
Volume 2016, Article ID 4548039, 6 pages
Research Article

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

11st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, Hungary
2PentaCore Lab, Koranyi Sandor Street 2/a, Budapest 1083, Hungary

Received 8 July 2015; Revised 15 September 2015; Accepted 20 September 2015

Academic Editor: Alfred Gangl

Copyright © 2016 Dániel Németh et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.