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

2014 ◽  
Vol 53 (2) ◽  
pp. 204-210 ◽  
Author(s):  
Bernadett Balla ◽  
Kristóf Árvai ◽  
Péter Horváth ◽  
Bálint Tobiás ◽  
István Takács ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Personal Genome ◽  
Ion Torrent ◽  
Personal Genome Machine ◽  
Sequencing Technique ◽  
Nf1 Gene ◽  
Generation Sequencing

scholarly journals Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1

2018 ◽  
Vol 21 (2) ◽  
pp. 45-48
Author(s):  
J Yang ◽  
J-X An ◽  
X-L Liu ◽  
Z-Q Wang ◽  
G-M Xie ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Next Generation ◽  
Facial Region ◽  
Café Au Lait Spots ◽  
Generation Sequencing ◽  
Exon Deletion

AbstractNeurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in theNF 1gene causes NF1. TheNF 1gene encodes neurofibromin. In this study, we found a 31-year-old Chinese boy with NF1. He presented only with café-au-lait spots over the whole body. The proband’s mother had a severe phenotype with neurofibroma and café-au-lait macules over her whole body, mostly in the facial region. A novel multi exon deletion c.(4661+1_4662-1)_(5748+1_5749-1)del; [EX36_39DEL] on theNF 1gene has been identified in the proband. Quantitative real-time polymerase chain reaction (qPCR) confirmed that this mutation is co-segregated well and was inherited from the proband’s mother. The mutation was absent in the proband’s father and normal individuals. The novel multi exon deletion results in the formation of a truncated NF1 protein that caused the NF1 phenotype in this family. Our present study also emphasized the significance of rapid, accurate and cost-effective screening for the patient with NF1 by next generation sequencing (NGS).

scholarly journals The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study

2014 ◽  
Vol 18 (11) ◽  
pp. 722-735 ◽  
Author(s):  
Ryo Maruoka ◽  
Toshiki Takenouchi ◽  
Chiharu Torii ◽  
Atsushi Shimizu ◽  
Kumiko Misu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Validation Study ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Next Generation ◽  
Generation Sequencing

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

2017 ◽  
Vol 60 (2) ◽  
pp. 93-99 ◽  
Author(s):  
Francesco Calì ◽  
Valeria Chiavetta ◽  
Giuseppa Ruggeri ◽  
Maria Piccione ◽  
Angelo Selicorni ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Mutation Spectrum ◽  
Ion Torrent ◽  
Ion Torrent Pgm ◽  
Nf1 Gene
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