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

Gastroenterology Research and Practice
Dániel NémethFerenc Szalay

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 usefu...Continue Reading

References

Jun 1, 1997·American Journal of Human Genetics·M S NanjiD W Cox
Sep 30, 1999·Human Mutation·D CurtisS Tanner
Sep 6, 2003·Liver International : Official Journal of the International Association for the Study of the Liver·Peter FerenciFrieder Berr
Jun 22, 2005·Molecular Genetics and Metabolism·Slavka VrabelovaLibor Kozak
Feb 3, 2007·European Journal of Gastroenterology & Hepatology·Aniko FolhofferFerenc Szalay
Mar 11, 2008·Cell·Andreas von Bubnoff
Sep 18, 2008·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Jessica D KormanUNKNOWN Pediatric and Adult Acute Liver Failure Study Groups
Mar 23, 2013·Brain : a Journal of Neurology·Alison J CoffeyOliver Bandmann
Feb 13, 2014·Annals of the New York Academy of Sciences·Peter Ferenci

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Citations

May 19, 2017·Journal of Human Genetics·Ja-Hyun JangEun-Hae Cho
Jun 2, 2017·Continuum : Lifelong Learning in Neurology·Robert N Schwendimann, Alireza Minagar

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Methods Mentioned

BETA
PCR
Assay
Biopsy

Software Mentioned

Integrative Genomics Viewer
Ingenuity Variant Analysis Pipeline
Primer3Plus
Ion Torrent Genome
Ion Torrent
AmpliSeq Designer
Torrent Suite

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