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Title: Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes
Authors: Sharafi, Parisa
Ayter, Şükriye
Keywords: Neurofibromatosis type 1
Genotype–phenotype correlation
Clinical variability
Modifier genes
Issue Date: 3-Apr-2018
Publisher: Taylor and Francis Ltd
Source: Sharafi, P., & Ayter, S. (2018). Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes. Journal of neurogenetics, 32(2), 65-77.
Abstract: Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype–phenotype correlations. Therefore, variations in NF1 mutations may not correlate with the variations in clinical phenotype. Indeed, for the same mutation, some NF1 patients may develop severe clinical symptoms whereas others will develop a mild phenotype. Variations in the mutant NF1 allele itself cannot account for all of the disease variability, indicating a contribution of modifier genes, environmental factors, or their combination. Considering the gene structure and the interaction of neurofibromin protein with cellular components, there are many possible candidate modifier genes. This review aims to provide an overview of the potential modifier genes contributing to NF1 clinical variability.
Description: This is an original manuscript / preprint of an article published by Taylor & Francis in Journal of Neurogenetics on 12 Apr 2018 available online:
ISSN: 01677063
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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