Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene

Neurofibromatosis type 1 (NF1) gene exhibits one of the highest spontaneous mutation rates in the human genome. Identification of the NF1 mutation is challenging because the NF1 gene is very large and complex, lacking mutational “hot spots.” There is no clustering of mutations, there are several pse...

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Bibliographic Details
Published in:Journal of molecular neuroscience 2014-06, Vol.53 (2), p.204-210
Main Authors: Balla, Bernadett, Árvai, Kristóf, Horváth, Péter, Tobiás, Bálint, Takács, István, Nagy, Zsolt, Dank, Magdolna, Fekete, György, Kósa, János P., Lakatos, Péter
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Cell Biology
Child
Female
Genetic testing
Genome, Human
Genomes
Genotype & phenotype
High-Throughput Nucleotide Sequencing - methods
Humans
Infant
Male
Molecular biology
Mutation
Neurochemistry
Neurofibromatosis 1 - diagnosis
Neurofibromatosis 1 - genetics
Neurofibromin 1 - genetics
Neurology
Neurosciences
Patients
Pediatrics
Polymorphism, Single Nucleotide
Precision Medicine - methods
Proteomics
Sequence Analysis, DNA - methods
Tumors
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Summary:Neurofibromatosis type 1 (NF1) gene exhibits one of the highest spontaneous mutation rates in the human genome. Identification of the NF1 mutation is challenging because the NF1 gene is very large and complex, lacking mutational “hot spots.” There is no clustering of mutations, there are several pseudogenes, and a wide spectrum of different types of mutation has been recognized. To date, NF1 mutations or deleted regions have been detected with a number of techniques. With the appearance of next-generation sequencing (NGS) machines, molecular biology is in a new revolutionary phase. Our aim was to work out a method to use the high-throughput NGS machine, Ion Torrent PGM, in diagnostic settings for neurofibromatosis type 1. In our examination, we could reveal 21 distinct variations in NF1 gene in seven patients. This is an absolutely new method for exploring the genetic background of neurofibromatosis type 1 exhibiting the extremely high throughput of NGS in a diagnostic setting.
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-014-0286-7