Fragile X syndrome - insight into what we know and prospects
DOI:
https://doi.org/10.12775/JEHS.2023.19.01.006Keywords
Fragile X syndrome, autism, neurodevelopmental disorders, FMRP, FMR1Abstract
Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1 gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrome
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Copyright (c) 2023 Adam Strzoda, Magdalena Kamińska, Anna Strzoda, Agata Strzoda, Wojciech Sowiński, Michał Zdybel, Agata Juda, Kornelia Rojek
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