Abstract

CASTILLO JUAREZ, Juan Carlos et al. Fragile X Syndrome and Other Pathologies Associated with the FMR1 Gene. Rev. Med [online]. 2021, vol.29, n.1, pp.37-55.  Epub Dec 31, 2021. ISSN 0121-5256.  https://doi.org/10.18359/rmed.5262.

fragile X syndrome is the most common cause of X-linked psychomotor retardation in children, with a prevalence of 1 : 5.000 in males and 1 : 4.000 -8.000 in females. It is also the hereditary cause most associated with autism spectrum syndrome. The etiological basis of this pathology is the expansion of the CGG triplet at the distal end of the FMR1 gene, which causes its silencing. Patients affected with this syndrome usually suffer from behavioral, neurological, cardiac and orthopedic problems. This syndrome is also related to Fragile X-associated primary ovarian insufficiency, and Fragile X-associated tremor and ataxia syndrome affecting the mother and maternal grandfather, which, because of their recent description, may be unknown to health care providers, delaying their diagnosis and treatment. The objective of this article is to analyze these diseases, in order to describe the current knowledge about their etiology, clinical manifestations, diagnosis and treatment. This was done by collecting articles in Pubmed, with some contributions from Scielo, Redalyc, Europe PMC, Science Direct, Google Scholar and Genetics Home Reference databases. Among the main conclusions, it is highlighted that the phenotypes associated with FMR1 gene premutation involve different pathophysiological mechanisms to Fragile X syndrome, despite being closely related.

Keywords : fragile X syndrome mental retardation protein; Fragile X syndrome; intellectual disability; autistic disorder; Fragile X-associated tremor and ataxia syndrome; Fragile X-associated premature ovarian failure.

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