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The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis
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Fatemeh Shahraki1    , Morteza Oladnabi * 2 |
1- M.Sc in Genetics, Department of Biology, Faculty of Basic Sciences, Gonbad Kavous University, Gonbad Kavous, Iran.
2- Associate Professor, Gorgan Congenital Malformations Research Center, Department of Human Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran. , oladnabidozin@yahoo.com |
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Abstract: (3447 Views) |
Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems. Neurofibromatosis type 1 (NF1), along with neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), are the three main types of NF. As the most common form, NF1 is characterized by neurofibromas and Cafe-au-lait macules (CALMs) in early childhood. Neurofibromatosis type 1 is caused by mutations in the NF1 gene, which codes for neurofibromin, and mutations in NF2 and SMARCB1 gene lead to neurofibromatosis type 2 and schwannomatosis, respectively. In addition, most patients with neurofibromatosis type 2 have vestibular schwannoma, also associated with hearing problems and body imbalance. Recently, schwannomatosis has been proposed as a distinct genetic disorder because it shares many symptoms with neurofibromatosis types one and two, characterized by benign schwannoma around nerves. NF1 and NF2 may show symptoms in childhood, but schwannomatosis is often diagnosed in people in their thirties or older. This article reviews the latest scientific literature according to the keywords of neurofibromatosis, pathogenesis, treatment, NF1, and NF2 in Google Scholar, PubMed, and Web of Science online databases on the types of neurofibromatosis, molecular pathways, diagnostic criteria, clinical symptoms, condition management, treatments and drugs under development. |
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Keywords: Neurofibromatoses [MeSH], Etiology [MeSH], Therapeutics [MeSH], Neurofibromatosis 1 [MeSH], Neurofibromatosis 2 [MeSH]
Article ID: Vol25-15 |
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Full-Text [PDF 1022 kb]
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Type of Study: Review Article |
Subject:
Genetic
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Shahraki F, Oladnabi M. The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis. J Gorgan Univ Med Sci 2023; 25 (2) :1-11 URL: http://goums.ac.ir/journal/article-1-4200-en.html
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