Martin-Bell fragile X syndrome
Department of Genetics, Faculty of Medicine and Nutrition, Juárez University of Durango State, Mexico.
Review Article
GSC Advanced Research and Reviews, 2023, 15(03), 171–177.
Article DOI: 10.30574/gscarr.2023.15.3.0213
Publication history:
Received on 02 May 2023; revised on 13 June 2023; accepted on 16 June 2023
Abstract:
Fragile X syndrome (FXS) is one of the many disorders that are known and that are caused by some alteration or modification at the genetic level, one of the main characteristics of this type of syndrome also called Martin-Bell syndrome, is intellectual disability, as well as certain behaviors due to behavioral disorders, This is due to changes in the FMR1 gene, which is very important because it is responsible for producing the FMRP protein, which has the function of brain development, so when there is some kind of change in the gene and developing FXS the person may have little or no production of the FMRP protein.
Keywords:
X chromosome; FMR1 gene; Intellectual disability; Disorders; Syndrome; Mutation
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Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0
