Fragile X syndrome and fragile X-associated disorders

Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi J Hagerman

Research output: Contribution to journalReview article

13 Scopus citations

Abstract

Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.

Original languageEnglish (US)
Article number2112
JournalF1000Research
Volume6
DOIs
StatePublished - Jan 1 2017

Keywords

  • Copy number variants
  • FMR1 gene
  • Point mutations
  • Whole exome sequencing

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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    Rajaratnam, A., Shergill, J., Salcedo-Arellano, M., Saldarriaga, W., Duan, X., & Hagerman, R. J. (2017). Fragile X syndrome and fragile X-associated disorders. F1000Research, 6, [2112]. https://doi.org/10.12688/f1000research.11885.1