Novel germinal mutation in NF1: case report

Montero, Javier Arredondo; Arbues, Santiago López; Anaut, Mónica Bronte; Garofalo, Lourdes Morales; García, F.J.

doi:10.1007/s11033-021-06720-3

Mol Biol Rep

2021

DOI: 10.1007/s11033-021-06720-3

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Novel germinal mutation in NF1: case report

Javier Arredondo Montero

Santiago López Arbues

Mónica Bronte Anaut

et al.

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2023

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confidence: 99%

“…Previous studies regarding BMD-related skeletal abnormalities were mainly focused on the exploration of pathologic mechanisms in the context of Ras signaling dysregulation after NF1 mutation, 2 as well as the detection of the novel NF1 gene pathogenic variants in patients with NF1. [27][28][29][30][31][32][33] Most published studies centered on NF1-related pseudarthrosis 34 and NF1-associated spinal deformities. 35 To better understand the bone-related issues in the dystrophic area of scoliosis, HTBs as bone-specific and lesionspecific factors may more accurately reflect abnormal skeletal development.…”

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Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1–Related Dystrophic Scoliosis With Osteopenia

Li,

Wu,

et al. 2023

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Study Design: Microarray approach and integrated gene network analysis. Objective: To explore the differential genetic expression profile, Gene Ontology (GO) terms, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways in human trabecular bone-derived cells (HTBs) of dystrophic scoliosis secondary to Neurofibromatosis Type 1 (DS-NF1) and compare these to normal controls. Summary of Background Data: The pathogenesis of DS-NF1 and the accompanying generalized osteopenia remain unclear. We hypothesized that HTBs may play a significant role in the etiology and pathogenesis of DS-NF1. Methods: Microarray analysis was used to identify differentially expressed genes (DEGs) of HTBs from DS-NF1 patients compared with those from healthy individuals. Functional and pathway enrichment analysis were implemented through GO and KEGG pathway database. Then, search tool for the retrival of interacting genes/proteins (STRING) database, Cytoscape and Molecular Complex Detection (MCODE) were applied to construct the protein-protein interaction (PPI) network and screen hub genes. Pathway enrichment analysis was further performed for hub genes and gene clusters identified via module analysis. Six potential crucial genes were selected for validation by reverse transcription polymerase chain reaction. Results: Bioinformatic analysis revealed that there are 401 previously unrecognized DEGs (238 up and 163 down-regulated genes) in HTBs from DS-NF1 patients, and they were mainly enriched in the terms of immune response, type I interferon signaling, TNF signaling pathway and RIG-I-like receptor signaling pathway. Five hub genes including STAT1, OASL, IFIH1, IRF7 and MX1 were identified through PPI network, which were mainly enriched in terms of Jak-STAT and RIG-I-like receptor signaling pathway. An independently dysregulated protein cluster containing CCL2, CXCL1, CXCL3, CX3CL1, TLR1 and CXCL12 was also identified via PPI network. This indicated that the upper abnormally expressed genes may play essential roles in DS-NF1 pathogenesis and accompanied osteopenia. Conclusion: Six key genes were identified in the progression of DS-NF1-related osteopenia. Immune response might play a key role in the progression of osteopenia, while a CXCL12-mediated osteogenic effect might play a protective role. Level of Evidence: N/A.

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confidence: 99%

Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1–Related Dystrophic Scoliosis With Osteopenia

Li,

Wu,

et al. 2023

Spine

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Novel germinal mutation in NF1: case report

Cited by 1 publication

References 3 publications

Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1–Related Dystrophic Scoliosis With Osteopenia

Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1–Related Dystrophic Scoliosis With Osteopenia

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