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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients
Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Mult...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349720/ https://www.ncbi.nlm.nih.gov/pubmed/32575496 http://dx.doi.org/10.3390/genes11060671 |
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author | Bianchessi, Donatella Ibba, Maria Cristina Saletti, Veronica Blasa, Stefania Langella, Tiziana Paterra, Rosina Cagnoli, Giulia Anna Melloni, Giulia Scuvera, Giulietta Natacci, Federica Cesaretti, Claudia Finocchiaro, Gaetano Eoli, Marica |
author_facet | Bianchessi, Donatella Ibba, Maria Cristina Saletti, Veronica Blasa, Stefania Langella, Tiziana Paterra, Rosina Cagnoli, Giulia Anna Melloni, Giulia Scuvera, Giulietta Natacci, Federica Cesaretti, Claudia Finocchiaro, Gaetano Eoli, Marica |
author_sort | Bianchessi, Donatella |
collection | PubMed |
description | Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Multiplex Ligation-Dependent Probe Amplification Analysis (MLPA) method was performed to rule out large deletions/duplications in NF1 gene; we validated the MLPA/NGS approach using Sanger sequencing on DNA or RNA of both positive and negative samples. In our cohort, a pathogenic variant was found in 175 patients; the pathogenic variant was observed in NF1 gene in 168 cases. A SPRED1 pathogenic variant was also found in one child and in a one year old boy, both NF2 and LZTR1 pathogenic variants were observed; in addition, we identified five LZTR1 pathogenic variants in three children and two adults. Six NF1 pathogenic variants, that the NGS analysis failed to identify, were detected on RNA by Sanger. NGS allows the identification of novel mutations in five genes in the same sequencing run, permitting unambiguous recognition of disorders with overlapping phenotypes with NF1 and facilitating genetic counseling and a personalized follow-up. |
format | Online Article Text |
id | pubmed-7349720 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-73497202020-07-15 Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients Bianchessi, Donatella Ibba, Maria Cristina Saletti, Veronica Blasa, Stefania Langella, Tiziana Paterra, Rosina Cagnoli, Giulia Anna Melloni, Giulia Scuvera, Giulietta Natacci, Federica Cesaretti, Claudia Finocchiaro, Gaetano Eoli, Marica Genes (Basel) Article Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1 genes on Ion Torrent. Together with NGS, the Multiplex Ligation-Dependent Probe Amplification Analysis (MLPA) method was performed to rule out large deletions/duplications in NF1 gene; we validated the MLPA/NGS approach using Sanger sequencing on DNA or RNA of both positive and negative samples. In our cohort, a pathogenic variant was found in 175 patients; the pathogenic variant was observed in NF1 gene in 168 cases. A SPRED1 pathogenic variant was also found in one child and in a one year old boy, both NF2 and LZTR1 pathogenic variants were observed; in addition, we identified five LZTR1 pathogenic variants in three children and two adults. Six NF1 pathogenic variants, that the NGS analysis failed to identify, were detected on RNA by Sanger. NGS allows the identification of novel mutations in five genes in the same sequencing run, permitting unambiguous recognition of disorders with overlapping phenotypes with NF1 and facilitating genetic counseling and a personalized follow-up. MDPI 2020-06-19 /pmc/articles/PMC7349720/ /pubmed/32575496 http://dx.doi.org/10.3390/genes11060671 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Bianchessi, Donatella Ibba, Maria Cristina Saletti, Veronica Blasa, Stefania Langella, Tiziana Paterra, Rosina Cagnoli, Giulia Anna Melloni, Giulia Scuvera, Giulietta Natacci, Federica Cesaretti, Claudia Finocchiaro, Gaetano Eoli, Marica Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients |
title | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients |
title_full | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients |
title_fullStr | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients |
title_full_unstemmed | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients |
title_short | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients |
title_sort | simultaneous detection of nf1, spred1, lztr1, and nf2 gene mutations by targeted ngs in an italian cohort of suspected nf1 patients |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349720/ https://www.ncbi.nlm.nih.gov/pubmed/32575496 http://dx.doi.org/10.3390/genes11060671 |
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