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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,...

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Autores principales: Wang, Wei, Wei, Cheng-Jiang, Cui, Xi-Wei, Li, Yue-Hua, Gu, Yi-Hui, Gu, Bin, Li, Qing-Feng, Wang, Zhi-Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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.
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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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