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

Dániel Németh, Kristóf Árvai, P. Horváth, J. Kósa, Bálint Tobiás, Bernadett Balla, Anikó Folhoffer, Anna Krolopp, Péter András Lakatos, F. Szalay

Research output: Article

7 Citations (Scopus)

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.

Original languageEnglish
Article number4548039
JournalGastroenterology Research and Practice
Volume2016
DOIs
Publication statusPublished - 2016

Fingerprint

Hepatolenticular Degeneration
Mutation
Genes
Costs and Cost Analysis
Acute Liver Failure
Liver Transplantation
Copper
Alleles
Genome
Ions

ASJC Scopus subject areas

  • Gastroenterology
  • Hepatology

Cite this

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease. / Németh, Dániel; Árvai, Kristóf; Horváth, P.; Kósa, J.; Tobiás, Bálint; Balla, Bernadett; Folhoffer, Anikó; Krolopp, Anna; Lakatos, Péter András; Szalay, F.

In: Gastroenterology Research and Practice, Vol. 2016, 4548039, 2016.

Research output: Article

Németh, Dániel ; Árvai, Kristóf ; Horváth, P. ; Kósa, J. ; Tobiás, Bálint ; Balla, Bernadett ; Folhoffer, Anikó ; Krolopp, Anna ; Lakatos, Péter András ; Szalay, F. / Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease. In: Gastroenterology Research and Practice. 2016 ; Vol. 2016.
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AU - Tobiás, Bálint

AU - Balla, Bernadett

AU - Folhoffer, Anikó

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AU - Lakatos, Péter András

AU - Szalay, F.

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