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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance. NF1 patients show high phenotypic variabilities, including cafe-au-lait macules,...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455870/ https://www.ncbi.nlm.nih.gov/pubmed/34566848 http://dx.doi.org/10.3389/fneur.2021.704639 |
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author | Wang, Wei Wei, Cheng-Jiang Cui, Xi-Wei Li, Yue-Hua Gu, Yi-Hui Gu, Bin Li, Qing-Feng Wang, Zhi-Chao |
author_facet | Wang, Wei Wei, Cheng-Jiang Cui, Xi-Wei Li, Yue-Hua Gu, Yi-Hui Gu, Bin Li, Qing-Feng Wang, Zhi-Chao |
author_sort | Wang, Wei |
collection | PubMed |
description | Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance. NF1 patients show high phenotypic variabilities, including cafe-au-lait macules, freckling, or other neoplastic or non-neoplastic features. Understanding the underlying mechanisms of the diversities of clinical symptoms might contribute to the development of personalized healthcare for NF1 patients. Currently, studies have shown that the different types of mutations in the NF1 gene might correlate with this phenomenon. In addition, genetic modifiers are responsible for the different clinical features. In this review, we summarize different genetic mutations of the NF1 gene and related genetic modifiers. More importantly, we focus on the genotype–phenotype correlation. This review suggests a novel aspect to explain the underlying mechanisms of phenotypic heterogeneity of NF1 and provides suggestions for possible novel therapeutic targets to prevent or delay the onset and development of different manifestations of NF1. |
format | Online Article Text |
id | pubmed-8455870 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84558702021-09-23 Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 Wang, Wei Wei, Cheng-Jiang Cui, Xi-Wei Li, Yue-Hua Gu, Yi-Hui Gu, Bin Li, Qing-Feng Wang, Zhi-Chao Front Neurol Neurology Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance. NF1 patients show high phenotypic variabilities, including cafe-au-lait macules, freckling, or other neoplastic or non-neoplastic features. Understanding the underlying mechanisms of the diversities of clinical symptoms might contribute to the development of personalized healthcare for NF1 patients. Currently, studies have shown that the different types of mutations in the NF1 gene might correlate with this phenomenon. In addition, genetic modifiers are responsible for the different clinical features. In this review, we summarize different genetic mutations of the NF1 gene and related genetic modifiers. More importantly, we focus on the genotype–phenotype correlation. This review suggests a novel aspect to explain the underlying mechanisms of phenotypic heterogeneity of NF1 and provides suggestions for possible novel therapeutic targets to prevent or delay the onset and development of different manifestations of NF1. Frontiers Media S.A. 2021-09-08 /pmc/articles/PMC8455870/ /pubmed/34566848 http://dx.doi.org/10.3389/fneur.2021.704639 Text en Copyright © 2021 Wang, Wei, Cui, Li, Gu, Gu, Li and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Wang, Wei Wei, Cheng-Jiang Cui, Xi-Wei Li, Yue-Hua Gu, Yi-Hui Gu, Bin Li, Qing-Feng Wang, Zhi-Chao Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 |
title | Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 |
title_full | Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 |
title_fullStr | Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 |
title_full_unstemmed | Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 |
title_short | Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1 |
title_sort | impacts of nf1 gene mutations and genetic modifiers in neurofibromatosis type 1 |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455870/ https://www.ncbi.nlm.nih.gov/pubmed/34566848 http://dx.doi.org/10.3389/fneur.2021.704639 |
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