摘要
Background: Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition syndrome that targets the peripheral nervous system. It is caused by mutations of the NF1 gene which serve as a negative regulator of the cellular Ras/MAPK (mitogen-activated protein kinases) signaling pathway. Owing to the complexity in some parts of clinical diagnoses and the need for better understanding of its molecular relationships, a genetic characterization of this disorder will be helpful in the clinical setting. Methods: In this study, we present a customized targeted gene panel of NF1/KRAS/BRAF/p53 and SPRED1 genes combined with Multiple Ligation-Dependent Probe Amplification analysis for the NF1 mutation screening in a cohort of patients clinically suspected as NF1. Results: In this study, we identified 73 NF1 mutations and two BRAF novel variants from 100 NF1 patients who were suspected as having NF1. These genetic alterations are heterogeneous and distribute in a complicated way without clustering in either cysteine-serine-rich domain or within the GAP-related domain. We also detected fifteen multi-exon deletions within the NF1 gene by MLPA Analysis. Conclusions: Our results suggested that a genetic screening using a NGS panel with high coverage of Ras-signaling components combined with Multiple Ligation-Dependent Probe Amplification analysis will enable differential diagnosis of patients with overlapping clinical features.
原文 | 英語 |
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文章編號 | 72 |
期刊 | Journal of Biomedical Science |
卷 | 25 |
發行號 | 1 |
DOIs | |
出版狀態 | 已發佈 - 10月 5 2018 |
對外發佈 | 是 |
Keywords
- Genetic counseling
- MLPA
- Neurofibromatosis type 1
- RASopathies
- Targeted NGS
ASJC Scopus subject areas
- 內分泌學、糖尿病和代謝
- 分子生物學
- 臨床生物化學
- 細胞生物學
- 生物化學(醫學)
- 藥學(醫學)