ArticleMedicine2016
Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.
Article in Medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.Molecular genetics & genomic medicine · 2019Trial
- Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.Scientific reports · 2025Article
- Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.European journal of pediatrics · 2025Article
- Identification of Germinal Neurofibromin Hotspots.Biomedicines · 2022Article
- Comparison ofInternational journal of genomics · 2022Article
- Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.Italian journal of pediatrics · 2018Article
- A novelInternational journal of ophthalmology · 2018Article
- Article
- Genetic Analyses of theBalkan journal of medical genetics : BJMG · 2017Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation hotspots, and the presence of pseudogenes.Our goal was to establish a sensitive, feasible, and comparatively economical protocol to detect NF1 mutations using blood samples.We developed a method to screen patients for mutations. Thirty-two NF1 patients from 32 unrelated families and 120 unrelated population-match controls were investigated in this study. Specific primers were designed for NF1 to avoid pseudogenes. NF1 mutations were detected by sequencing at the deoxyribonucleic acid (DNA) and complementary DNA (cDNA) levels, and multiplex ligation-dependent probe amplification (MLPA) and familial segregation analyses were used.Forty-four specific primers designed according to the NF1 structure were successfully used for polymerase chain reaction (PCR) and DNA sequencing, which was more feasible and useful than cDNA sequencing. Thirty distinct NF1 mutations were identified in 32 patients. Thirteen mutations were novel and most were frameshift mutations (33.3%). Mutations were detected at a rate of 93.8%.Our study suggests that this sensitive, feasible, and comparatively economical protocol is effective for the detection of NF1 mutations.
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