Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
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-sa...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Gastroenterology Research and Practice |
| Online Access: | http://dx.doi.org/10.1155/2016/4548039 |
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| author | Dániel Németh Kristóf Árvai Péter Horváth János Pál Kósa Bálint Tobiás Bernadett Balla Anikó Folhoffer Anna Krolopp Péter András Lakatos Ferenc Szalay |
| author_facet | Dániel Németh Kristóf Árvai Péter Horváth János Pál Kósa Bálint Tobiás Bernadett Balla Anikó Folhoffer Anna Krolopp Péter András Lakatos Ferenc Szalay |
| author_sort | Dániel Németh |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-26f9d746bdb347b389422ef8fe2cb9a1 |
| institution | OA Journals |
| issn | 1687-6121 1687-630X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Gastroenterology Research and Practice |
| spelling | doaj-art-26f9d746bdb347b389422ef8fe2cb9a12025-08-20T02:04:24ZengWileyGastroenterology Research and Practice1687-61211687-630X2016-01-01201610.1155/2016/45480394548039Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s DiseaseDániel Németh0Kristóf Árvai1Péter Horváth2János Pál Kósa3Bálint Tobiás4Bernadett Balla5Anikó Folhoffer6Anna Krolopp7Péter András Lakatos8Ferenc Szalay91st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, HungaryPentaCore Lab, Koranyi Sandor Street 2/a, Budapest 1083, Hungary1st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, Hungary1st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, HungaryPentaCore Lab, Koranyi Sandor Street 2/a, Budapest 1083, HungaryPentaCore Lab, Koranyi Sandor Street 2/a, Budapest 1083, Hungary1st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, Hungary1st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, Hungary1st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, Hungary1st Department of Internal Medicine, Semmelweis University, Koranyi Sandor Street 2/a, Budapest 1083, HungaryObjective. 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.http://dx.doi.org/10.1155/2016/4548039 |
| spellingShingle | Dániel Németh Kristóf Árvai Péter Horváth János Pál Kósa Bálint Tobiás Bernadett Balla Anikó Folhoffer Anna Krolopp Péter András Lakatos Ferenc Szalay Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease Gastroenterology Research and Practice |
| title | Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease |
| title_full | Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease |
| title_fullStr | Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease |
| title_full_unstemmed | Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease |
| title_short | Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease |
| title_sort | clinical use of next generation sequencing in the diagnosis of wilson s disease |
| url | http://dx.doi.org/10.1155/2016/4548039 |
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